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List of works by Michael P. Whyte

"Café-au-lait spots" caused by vitiligo in McCune-Albright syndrome

scientific article

2009 Santa Fe Bone symposium

scientific article published on January 2010

99mTc-Pyrophosphate Bone Imaging in Osteopoikilosis, Osteopathia Striata, and Melorheostosis ⬇️

scientific article published on May 1, 1978

A five-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a six-generation Arkansas kindred

scientific article published on 01 September 2000

A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia

scientific article

ADULT HYPOPHOSPHATASIA TREATED WITH TERIPARATIDE: REPORT OF 2 PATIENTS AND REVIEW OF THE LITERATURE.

scientific article published on 4 April 2016

Aberrant properties of alkaline phosphatase in patient fibroblasts correlate with clinical expressivity in severe forms of hypophosphatasia

scientific article published on July 1996

Absence of MMP2 mutation in idiopathic multicentric osteolysis with nephropathy

scientific article published on 01 September 2007

Absence of an osteopetrosis phenotype in IKBKG (NEMO) mutation-positive women: A case-control study

scientific article published on 16 January 2019

Absence of paramyxo virus transcripts in juvenile Paget bone disease

scientific article published in July 1996

Acute severe hypercalcemia after traumatic fractures and immobilization in hypophosphatasia complicated by chronic renal failure

article

Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects

scientific article

Adult hypophosphatasia dominant inheritance in a large kindred

scientific article published in January 1978

Adult hypophosphatasia treated with teriparatide

scientific article published on 09 January 2007

Adult hypophosphatasia with chondrocalcinosis and arthropathy. Variable penetrance of hypophosphatasemia in a large Oklahoma kindred

scientific article published on April 1982

Adult hypophosphatasia. Clinical, laboratory, and genetic investigation of a large kindred with review of the literature

scientific article published on September 1, 1979

Alendronate for the treatment of pediatric osteogenesis imperfecta: a randomized placebo-controlled study.

scientific article

Alkaline Phosphatase and Hypophosphatasia

scientific article published on 21 November 2015

Alkaline phosphatase knock-out mice recapitulate the metabolic and skeletal defects of infantile hypophosphatasia

scientific article

Alkaline phosphatase: placental and tissue-nonspecific isoenzymes hydrolyze phosphoethanolamine, inorganic pyrophosphate, and pyridoxal 5'-phosphate. Substrate accumulation in carriers of hypophosphatasia corrects during pregnancy

scientific article

An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism

scientific article

Analysis of liver/bone/kidney alkaline phosphatase mRNA, DNA, and enzymatic activity in cultured skin fibroblasts from 14 unrelated patients with severe hypophosphatasia.

scientific article

Asfotase Alfa Treatment Improves Survival for Perinatal and Infantile Hypophosphatasia

scientific article

Asfotase alfa for infants and young children with hypophosphatasia: 7 year outcomes of a single-arm, open-label, phase 2 extension trial

scientific article published on 14 December 2018

Asfotase alfa therapy for children with hypophosphatasia

scientific article

Assessment of calcitriol and inorganic phosphate therapy before cure of oncogenous osteomalacia by resection of a mixed mesenchymal tumor

scientific article published on 01 January 1988

Atypical subtrochanteric and diaphyseal femoral fractures: Report of a task force of the American Society for Bone and Mineral Research

article

Atypical subtrochanteric and diaphyseal femoral fractures: report of a task force of the American Society for Bone and Mineral Research

scientific article

Atypical subtrochanteric and diaphyseal femoral fractures: second report of a task force of the American Society for Bone and Mineral Research

scientific article published on October 2013

Auricular ossification: A newly recognized feature of osteoprotegerin-deficiency juvenile Paget disease

scientific article published on 14 January 2016

Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvement

scientific article published on 17 June 2008

Axial osteomalacia. Clinical, laboratory and genetic investigation of an affected mother and son.

scientific article

Bilateral radial ray hypoplasia with multiple epiphyseal dysplasia

scientific article published on 01 May 1998

Biochemical and ultrastructural demonstration of elastin accumulation in the skin lesions of the Buschke-Ollendorff syndrome

scientific article published on April 1981

Bisphosphonate-induced osteopetrosis

scientific article published in July 2003

Bisphosphonate-induced osteopetrosis: novel bone modeling defects, metaphyseal osteopenia, and osteosclerosis fractures after drug exposure ceases

scientific article published in October 2008

Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutation

scientific article published on 28 August 2019

Burosumab Therapy in Children with X-Linked Hypophosphatemia

scientific article published on 01 May 2018

Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial

scientific article published on 16 May 2019

Buschke-Ollendorff syndrome: absence of LEMD3 mutation in an affected family.

scientific article published in January 2010

COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta.

scientific article

Calcific periarthritis as the only clinical manifestation of hypophosphatasia in middle-aged sisters

scientific article published on 01 April 2014

Calcinosis Universalis Complicating Juvenile Dermatomyositis: Resolution During Probenecid Therapy1 ⬇️

scientific article published on 01 November 1997

Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism

scientific article

Calcium-sensing receptor mutations in familial hypocalciuric hypercalcaemia with recurrent pancreatitis

scientific article published in December 1996

Camurati-engelmann disease: Unique variant featuring a novel mutation in TGFβ1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligand ⬇️

scientific article published on May 1, 2011

Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification

scientific article

Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification

scientific article

Cementum and dentin in hypophosphatasia

scientific article published in November 2005

Central osteosclerosis with ectodermal dysplasia: clinical, laboratory, radiologic, and histopathologic characterization with review of the literature

scientific article published on December 1989

Chronic recurrent multifocal osteomyelitis mimicked in childhood hypophosphatasia

scientific article published on 01 August 2009

Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia

scientific article published in March 2008

Coalescing Expansile Skeletal Disease: Delineation Of An Extraordinary Osteopathy Involving The IFITM5 Mutation Of Osteogenesis Imperfecta Type V

scientific article published on 24 December 2020

Comparison of human chromosome 19q13 and syntenic region on mouse chromosome 7 reveals absence, in man, of 11.6 Mb containing four mouse calcium-sensing receptor-related sequences: relevance to familial benign hypocalciuric hypercalcaemia type 3.

scientific article

Congenital insensitivity to pain: Fracturing without apparent skeletal pathobiology caused by an autosomal dominant, second mutation in SCN11A encoding voltage-gated sodium channel 1.9.

scientific article published on 30 December 2015

Construction of a YAC contig and an STS map spanning 3.6 megabase pairs in Xp22.1.

scientific article published in January 1996

Creatine kinase brain isoenzyme (BB-CK) presence in serum distinguishes osteopetroses among the sclerosing bone disorders

scientific article published in October 1996

Deactivating germline mutations in LEMD3 cause osteopoikilosis and Buschke-Ollendorff syndrome, but not sporadic melorheostosis

scientific article

Deficiency of the alpha-subunit of the stimulatory G protein and severe extraskeletal ossification

scientific article published in November 2000

Denaturing gradient gel electrophoresis analysis of the tissue nonspecific alkaline phosphatase isoenzyme gene in hypophosphatasia

scientific article published on 01 February 2002

Differing Lumbar Vertebral Mineralization Rates in Ambulatory Pediatric Patients with Osteogenesis Imperfecta ⬇️

scientific article published on January 1, 1998

Dose response of bone-targeted enzyme replacement for murine hypophosphatasia ⬇️

scientific article published on March 31, 2011

Doubling skeletal mass during adult life: The syndrome of diffuse osteosclerosis after intravenous drug abuse

article

Dual-Energy X-Ray Absorptiometry Interpretation: A Simple Equation for Height Correction in Preteenage Children ⬇️

scientific article published on March 16, 2012

Dysosteosclerosis presents as an "osteoclast-poor" form of osteopetrosis: comprehensive investigation of a 3-year-old girl and literature review.

scientific article

Early-onset Paget's disease of bone in a Mexican family caused by a novel tandem duplication (77dup27) in TNFRSF11A that encodes RANK

scientific article published on 08 January 2020

Efficacy and safety of burosumab in children aged 1-4 years with X-linked hypophosphataemia: a multicentre, open-label, phase 2 trial

scientific article published on 09 January 2019

Elevated plasma 4-pyridoxic acid in renal insufficiency ⬇️

scientific article published on January 1, 2002

Elevated serum lactate dehydrogenase isoenzymes and aspartate transaminase distinguish Albers-Schönberg disease (Chloride Channel 7 Deficiency Osteopetrosis) among the sclerosing bone disorders

scientific article published in November 2010

Enzyme replacement prevents enamel defects in hypophosphatasia mice ⬇️

scientific article published on August 1, 2012

Enzyme replacement therapy for infantile hypophosphatasia attempted by intravenous infusions of alkaline phosphatase-rich Paget plasma: results in three additional patients

scientific article

Enzyme replacement therapy for murine hypophosphatasia

scientific article

Enzyme replacement therapy prevents dental defects in a model of hypophosphatasia

scientific article

Enzyme-replacement therapy in life-threatening hypophosphatasia.

scientific article published in March 2012

Erratum: Metachondromatosis: report of a family with facial features mildly resembling trichorhinophalangeal syndrome (Pediatr Radiol (1997) 27: 436-441) ⬇️

scientific article published on 01 November 1997

Evidence against a role for alkaline phosphatase in the dephosphorylation of plasma membrane proteins: hypophosphatasia fibroblast study

scientific article published on 01 September 1993

Expansile skeletal hyperphosphatasia: a new familial metabolic bone disease

scientific article published in December 2000

Expression and cloning of the human X-linked hypophosphatemia gene cDNA

scientific article

Extraskeletal osteoclastomas responsive to dexamethasone treatment in Paget bone disease

scientific article published on 01 November 1997

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

scientific article

Familial expansile osteolysis (excessive RANK effect) in a 5-generation American kindred

scientific article

Fibrodysplasia ossificans progressiva: Middle-age onset of heterotopic ossification from a unique missense mutation (c.974G > C, p.G325A) in ACVR1 ⬇️

scientific article published on March 1, 2012

Fifty-year follow-up of hypophosphatasia

scientific article published on 01 November 1981

Five-year efficacy and safety of asfotase alfa therapy for adults and adolescents with hypophosphatasia

scientific article published on 18 December 2018

Genetic Approaches to Metabolic Bone Diseases

article

Genetics of Skeletal Disorders

scientific article published on 13 March 2020

Gnathodiaphyseal dysplasia: Severe atypical presentation with novel heterozygous mutation of the anoctamin gene (ANO5).

scientific article published on 21 November 2017

Growth Curves for Children with X-linked Hypophosphatemia

scientific article published on 28 July 2020

Healing of lytic Paget bone disease with diphosphonate therapy

scientific article published on 01 March 1980

Healing of vitamin D deficiency rickets complicating hypophosphatasia suggests a role beyond circulating mineral sufficiency for vitamin D in musculoskeletal health

scientific article published on 18 March 2020

Hepatitis C-Associated Osteosclerosis: Late Onset after Blood Transfusion in an Elderly Woman ⬇️

scientific article published on 01 January 1998

Heritable disorders of the RANKL/OPG/RANK signaling pathway

scientific article

High Bone Mass From Mutation Of Low-Density Lipoprotein Receptor-Related Protein 6 (LRP6)

scientific article published on 27 July 2020

High-bone-mass disease and LRP5.

scientific article

Homozygosity for TNSALP mutation 1348c>T (Arg433Cys) causes infantile hypophosphatasia manifesting transient disease correction and variably lethal outcome in a kindred of black ancestry

scientific article (publication date: June 2006)

Hypercalciuria in osteogenesis imperfecta: a follow-up study to assess renal effects

scientific article published in March 1995

Hyperphosphatemia with low FGF7 and normal FGF23 and sFRP4 levels in the circulation characterizes pediatric hypophosphatasia

scientific article published on 26 February 2020

Hypophosphatasia (adult form): quantitation of serum alkaline phosphatase isoenzyme activity in a large kindred.

scientific article published on June 1980

Hypophosphatasia: Biochemical hallmarks validate the expanded pediatric clinical nosology

scientific article published on 19 January 2018

Hypophosphatasia: Natural history study of 101 affected children investigated at one research center

scientific article

Hypophosphatasia: Nonlethal disease despite skeletal presentation in utero (17 new cases and literature review) ⬇️

scientific article published on October 1, 2011

Hypophosphatasia: levels of bone alkaline phosphatase immunoreactivity in serum reflect disease severity

scientific article published on 01 June 1996

Hypophosphatasia: molecular diagnosis of Rathbun's original case

scientific article published in September 2001

Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients

scientific article published on 27 February 2015

Hypophosphatemic osteosclerosis, hyperostosis, and enthesopathy associated with novel homozygous mutations of DMP1 encoding dentin matrix protein 1 and SPP1 encoding osteopontin: The first digenic SIBLING protein osteopathy?

scientific article published on 13 December 2019

Hypotrichosis with spondyloepimetaphyseal dysplasia in three generations: a new autosomal dominant syndrome

scientific article published in July 1990

Identification of a Second Kindred with Familial Hypocalciuric Hypercalcemia Type 3 (FHH3) Narrows Localization to a <3.5 Megabase Pair Region on Chromosome 19q13.3

scientific article published on 04 February 2010

Idiopathic Acquired Osteosclerosis in a Middle-Aged Woman With Systemic Lupus Erythematosus

scientific article

Idiopathic Multicentric Osteolysis

article

Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein

scientific article (publication date: April 2004)

Increased plasma pyridoxal-5'-phosphate levels before and after pyridoxine loading in carriers of perinatal/infantile hypophosphatasia

scientific article published in January 1990

Increased urine heparan and chondroitin sulphate excretion in patients with osteopetrosis

scientific article published on 01 February 2000

Infantile hypophosphatasia fibroblasts proliferate normally in culture: evidence against a role for alkaline phosphatase (tissue nonspecific isoenzyme) in the regulation of cell growth and differentiation

scientific article published on January 1987

Infantile hypophosphatasia: enzymatic defect explored with alkaline phosphatase-deficient skin fibroblasts in culture

scientific article published on 01 May 1987

Infantile hypophosphatasia: enzyme replacement therapy by intravenous infusion of alkaline phosphatase-rich plasma from patients with Paget bone disease

scientific article

Infantile hypophosphatasia: normalization of circulating bone alkaline phosphatase activity followed by skeletal remineralization. Evidence for an intact structural gene for tissue nonspecific alkaline phosphatase

scientific article published on 01 January 1986

Infantile hypophosphatasia: successful prenatal assessment by testing for tissue-non-specific alkaline phosphatase isoenzyme gene mutations

scientific article published on 01 November 1995

Infantile hypophosphatasia: transplantation therapy trial using bone fragments and cultured osteoblasts

scientific article

Intermittent radiographic changes of rickets without defective trabecular bone mineralization in a case of spondylometaphyseal dysplasia

scientific article published in January 1986

Juvenile Paget's Disease From Heterozygous Mutation of SP7 Encoding Osterix (Specificity Protein 7, Transcription Factor Sp7)

scientific article published on 13 April 2020

Juvenile Paget's disease in an Iranian kindred with vitamin D deficiency and novel homozygous TNFRSF11B mutation ⬇️

scientific article published on June 1, 2013

Juvenile Paget's disease with heterozygous duplication within TNFRSF11A encoding RANK

scientific article

Juvenile Paget's disease: the second reported, oldest patient is homozygous for the TNFRSF11B "Balkan" mutation (966_969delTGACinsCTT), which elevates circulating immunoreactive osteoprotegerin levels

scientific article published on June 2007

Juvenile paget disease: Life-long features of a mildly affected young woman

article

Lenz-Majewski hyperostotic dwarfism with hyperphosphoserinuria from a novel mutation in PTDSS1 encoding phosphatidylserine synthase 1.

scientific article published in April 2015

Linkage Studies of a Missouri Kindred with Autosomal Dominant Spondyloepimetaphyseal Dysplasia (SEMD) Indicate Genetic Heterogeneity

scientific article published on 01 August 1997

Linkage analysis of two cloned DNA sequences, DXS197 and DXS207, in hypophosphatemic rickets families

scientific article published in October 1990

Linkage studies in a kindred from Oklahoma, with familial benign (hypocalciuric) hypercalcaemia (FBH) and developmental elevations in serum parathyroid hormone levels, indicate a third locus for FBH.

scientific article published in August 1995

List of Contributors

Localisation of X linked recessive idiopathic hypoparathyroidism to a 1.5 Mb region on Xq26-q27

scientific article

Localization of familial benign hypercalcemia, Oklahoma variant (FBHOk), to chromosome 19q13

scientific article

Low serum alkaline phosphatase activity and pathologic fracture: case report and brief review of hypophosphatasia diagnosed in adulthood

scientific article

MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO)

scientific article

MON-516 Skeletal Fluorosis from Fluorocarbon Inhalation.

scientific article

Macroepiphyseal dysplasia with symptomatic osteoporosis, wrinkled skin, and aged appearance: a presumed autosomal recessive condition

scientific article published in January 1986

Management and prevention of vitamin D deficiency rickets in captive-born juvenile chimpanzees (Pan troglodytes).

scientific article published in September 2000

Management of femoral fractures and pseudofractures in adult hypophosphatasia

scientific article

Manifestations in a family with autosomal dominant bone fragility and limb-girdle myopathy

scientific article

Mapping autosomal dominant progressive limb-girdle myopathy with bone fragility to chromosome 9p21-p22: a novel locus for a musculoskeletal syndrome

scientific article published on 22 October 2005

Mapping the gene causing X-linked recessive idiopathic hypoparathyroidism to Xq26-Xq27 by linkage studies

scientific article

Markedly increased circulating pyridoxal-5'-phosphate levels in hypophosphatasia. Alkaline phosphatase acts in vitamin B6 metabolism

scientific article

Marrow cell transplantation for infantile hypophosphatasia

scientific article (publication date: April 2003)

Mast-cell proliferation in postmenopausal osteoporosis

scientific article published on 01 January 1983

Matrix vesicles in osteomalacic hypophosphatasia bone contain apatite-like mineral crystals ⬇️

scientific article published on December 1, 1997

Melorheostosis: Exome sequencing of an associated dermatosis implicates postzygotic mosaicism of mutated KRAS.

scientific article published on 20 April 2017

Metachondromatosis: report of a family with facial features mildly resembling trichorhinophalangeal syndromePediatr Radiol 1997 Nov;27(11):864

scientific article published on 01 May 1997

Mild autosomal dominant hypophosphatasia: in utero presentation in two families

scientific article published on 01 October 1999

Mixed-sclerosing-bone-dystrophy: 42-year follow-up of a case reported as osteopetrosis.

scientific article published on March 1986

Mixed-sclerosing-bone-dystrophy: report of a case and review of the literature

scientific article published on January 1981

Multicentric carpotarsal osteolysis syndrome is caused by only a few domain-specific mutations in MAFB, a negative regulator of RANKL-induced osteoclastogenesis.

scientific article

Mutational analysis of PHEX gene in X-linked hypophosphatemia

scientific article published on 01 October 1998

Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.

scientific article published on 9 December 2012

Natural History of Perinatal and Infantile Hypophosphatasia: A Retrospective Study

scientific article published on 09 April 2019

Neonatal High Bone Mass With First Mutation of the NF-κB Complex: Heterozygous De Novo Missense (p.Asp512Ser) RELA (Rela/p65).

scientific article published on 14 July 2015

Neonatal lethal osteochondrodysplasia with low serum levels of alkaline phosphatase and osteocalcin

scientific article published on 23 November 2004

New explanation for autosomal dominant high bone mass: Mutation of low-density lipoprotein receptor-related protein 6

scientific article published on 11 May 2019

New markers for linkage analysis of X-linked hypophosphataemic rickets

scientific article published on 01 July 1993

No vascular calcification on cardiac computed tomography spanning asfotase alfa treatment for an elderly woman with hypophosphatasia

scientific article published on 28 February 2019

Non-Endemic Skeletal Fluorosis: Causes And Associated Secondary Hyperparathyroidism (Case Report and Literature Review)

scientific article published on 05 January 2021

Normal cortical bone mass in patients after long term coumadin therapy

scientific article published on 01 February 1982

OR13-2 Burosumab Resulted in Greater Improvement in Rickets Than Conventional Therapy in Children with X-Linked Hypophosphatemia (XLH).

scientific article published on 30 April 2019

OR13-4 Safety Profile of Asfotase Alfa Treatment of Patients with Hypophosphatasia: A Pooled Analysis.

scientific article published on 30 April 2019

Occipital horn syndrome. Additional radiographic findings in two new cases

scientific article published on January 1, 1992

Oropharyngeal skeletal disease accompanying high bone mass and novel LRP5 mutation

scientific article published on 20 December 2004

Osteolytic Paget's bone disease in a young man. Rapid healing with human calcitonin therapy

scientific article published on 01 February 1985

Osteopathia striata associated with familial dermopathy and white forelock: evidence for postnatal development of osteopathia striata

scientific article published on 01 January 1980

Osteopetrosis, renal tubular acidosis and basal ganglia calcification in three sisters

scientific article published on July 1980

Osteopontin and the dento-osseous pathobiology of X-linked hypophosphatemia

scientific article

Osteoprotegerin deficiency and juvenile Paget's disease

scientific article

Outcome of Perinatal Hypophosphatasia in Manitoba Mennonites: A Retrospective Cohort Analysis ⬇️

scientific article published on April 12, 2013

PHEX 3'-UTR c.*231A>G near the polyadenylation signal is a relatively common, mild, American mutation that masquerades as sporadic or X-linked recessive hypophosphatemic rickets

scientific article published in January 2015

Paget bone disease involving young adults in 3 generations of a Korean family.

scientific article published on May 1997

Paget bone disease: radiologic documentation of healing with human calcitonin therapy

scientific article published on 01 July 1980

Painful diffuse osteosclerosis after intravenous drug abuse

scientific article published on October 1992

Panostotic expansile bone disease with massive jaw tumor formation and a novel mutation in the signal peptide of RANK.

scientific article published on April 2014

Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia

scientific article published in January 2002

Periodontal Defects in the A116T Knock-in Murine Model of Odontohypophosphatasia.

scientific article published on 25 February 2015

Persistent idiopathic hyperphosphatasemia from bone alkaline phosphatase in a healthy boy

scientific article published on 28 May 2020

Pharmacodynamics of Asfotase Alfa in Adults With Pediatric-Onset Hypophosphatasia

scientific article published on 25 September 2020

Polycystic bone disease

scientific article published on 01 February 2000

Polycystic bone disease: A new, autosomal dominant disorder

scientific article published on 01 August 1999

Postmenopausal osteoporosis. A heterogeneous disorder as assessed by histomorphometric analysis of Iliac crest bone from untreated patients

scientific article published in February 1982

Pregnancy-associated osteoporosis with a heterozygous deactivating LDL receptor-related protein 5 (LRP5) mutation and a homozygous methylenetetrahydrofolate reductase (MTHFR) polymorphism

scientific article published on 01 April 2014

Preonset Studies of Spondyloepiphyseal Dysplasia Tarda Caused by a Novel 2-Base Pair Deletion in SEDL Encoding Sedlin ⬇️

scientific article published on 01 December 2001

Progressive diaphyseal dysplasia (Engelmann disease(: scintigraphic-radiographic-clinical correlations

scientific article published in July 1981

Progressive diaphyseal dysplasia (Engelmann's disease). Report of a sporadic case of the mild form.

scientific article published in April 1980

Pseudo-(tumor-induced) rickets

scientific article

Pseudohypoparathyroidism type Ib is not caused by mutations in the coding exons of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene

scientific article

Pseudohypophosphatasia: aberrant localization and substrate specificity of alkaline phosphatase in cultured skin fibroblasts

scientific article published on November 1990

Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T>C, p.M226T; c.1112C>T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene

scientific article

Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660).

scientific article

Rapid skeletal turnover in a radiographic mimic of osteopetrosis.

scientific article

Recovery from skeletal fluorosis (an enigmatic, American case)

scientific article published on 01 January 2007

Reply: Response to: Rapid Skeletal Turnover in a Radiographic Mimic of Osteopetrosis Might Be Secondary to Systemic Mastocytosis

scientific article published on 10 June 2015

Response to: A Rapid Skeletal Turnover in Radiographic Mimic of Osteopetrosis Might Be Secondary to Systemic Mastocytosis

article

SAT-LB085 First Report of Burosumab (Anti-FGF23 Monoclonal Antibody) for Rickets Complicating HRAS-Associated Cutaneous Skeletal Hypophosphatemia Syndrome

scientific article published on 30 April 2019

Sclerosteosis: Report of type 1 or 2 in three Indian Tamil families and literature review

scientific article published on 02 August 2018

Severe skeletal toxicity from protracted etidronate therapy for generalized arterial calcification of infancy ⬇️

scientific article published on February 1, 2013

Significant developmental elevation in serum parathyroid hormone levels in a large kindred with familial benign (hypocalciuric) hypercalcemia

scientific article published on September 1, 1992

Skeletal Fluorosis Due To Inhalation Abuse of a Difluoroethane-Containing Computer Cleaner.

scientific article

Skeletal changes in epidermal nevus syndrome: does focal bone disease harbor clues concerning pathogenesis?

scientific article published in December 2005

Skeletal fluorosis and instant tea.

scientific article

Skeletal fluorosis from brewed tea.

scientific article published on 18 May 2011

Skeletal fluorosis from instant tea.

scientific article published in May 2008

Skeletal fluorosis in a resettled refugee from Kakuma refugee camp

scientific article published on 01 January 2019

Spondyloepimetaphyseal dysplasia: clinical and radiologic investigation of a large kindred manifesting autosomal dominant inheritance, and a review of the literature.

scientific article published on September 1993

Sporadic hyperphosphatasia syndrome featuring periostitis and accelerated skeletal turnover without receptor activator of nuclear factor-kappaB, osteoprotegerin, or sequestosome-1 gene defects

scientific article published on 06 February 2007

Stereospecific inhibition of alkaline phosphatase by L-tetramisole prevents in vitro cartilage calcification.

scientific article published in December 1980

Studies of mice deleted for Sox3 and uc482: relevance to X-linked hypoparathyroidism

scientific article published on 01 January 2020

Systemic mastocytosis

scientific article published on 01 November 1984

Systemic mastocytosis associated with generalized osteopenia. Histopathological characterization of the skeletal lesion using undecalcified bone from two patients.

scientific article published on September 1981

Tibial bowing exacerbated by partial premature epiphyseal closure in sex-linked hypophosphatemic rickets

scientific article published in February 1987

Transcription map of Xq27: candidates for several X-linked diseases

scientific article published in April 1999

Unique Variant of NOD2 Pediatric Granulomatous Arthritis With Severe 1,25-Dihydroxyvitamin D-Mediated Hypercalcemia and Generalized Osteosclerosis

scientific article published on 30 July 2018

Validation of a Novel Scoring System for Changes in Skeletal Manifestations of Hypophosphatasia in Newborns, Infants, and Children: The Radiographic Global Impression of Change Scale

scientific article published on 3 January 2018

Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis

scientific article published on 8 August 2012

X-Linked Hypophosphatemia: Uniquely Mild Disease Associated With PHEX 3'-UTR Mutation c.*231A>G (A Retrospective Case-Control Study)

scientific article published on 07 January 2020

X-linked hypoparathyroidism region on Xq27 is evolutionarily conserved with regions on 3q26 and 13q34 and contains a novel P-type ATPase

scientific article published on 01 December 2004

X-linked hypophosphatemia attributable to pseudoexons of the PHEX gene

scientific article published on 01 August 2001

X-linked hypophosphatemia in adults: prevalence of skeletal radiographic and scintigraphic features

scientific article published in May 1989

X-linked hypophosphatemia: Normal renal function despite medullary nephrocalcinosis 25 years after transient vitamin D2-induced renal azotemia ⬇️

scientific article published on December 1, 1997

X-linked hypophosphatemia: a clinical, biochemical, and histopathologic assessment of morbidity in adults

scientific article published in November 1989

X-linked hypophosphatemia: skeletal mass in adults assessed by histomorphometry, computed tomography, and absorptiometry

article

X-linked recessive spondyloepiphyseal dysplasia tarda. Clinical and radiographic evolution in a 6-generation kindred and review of the literature

scientific article published in January 1999

ZNF687 Mutations in an Extended Cohort of Neoplastic Transformations in Paget's Disease of Bone: Implications for Clinical Pathology

scientific article published on 27 February 2020

mtDNA analysis shows common ancestry in two kindreds with X-linked recessive hypoparathyroidism and reveals a heteroplasmic silent mutation

scientific article

“Atypical femoral fractures” during bisphosphonate exposure in adult hypophosphatasia ⬇️

scientific article published on 01 May 2012

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