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List of works by Marco Cappa

1-Hour plasma glucose in obese youth

scientific article published on 6 March 2012

A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia

scientific article published on 19 August 2015

A case of primary selective hypoaldosteronism carrying three mutations in the aldosterone synthase (Cyp11b2) gene

scientific article published on 24 March 2012

A mixture of oleic, erucic and conjugated linoleic acids modulates cerebrospinal fluid inflammatory markers and improve somatosensorial evoked potential in X-linked adrenoleukodystrophy female carriers

scientific article

A new multiplex method for the diagnosis of peroxisomal disorders allowing simultaneous determination of plasma very-long-chain fatty acids, phytanic, pristanic, docosahexaenoic and bile acids by high-performance liquid chromatography-atmospheric pr

scientific article

A new therapeutic approach for X-linked adrenoleukodystrophy

scientific article published on 01 May 1990

A novel heterozygous mutation of the AIRE gene in a patient with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED).

scientific article

A study of growth hormone release in man after oral administration of amino acids

scientific article published on 01 January 1981

Abnormal glucose tolerance in children with cystic fibrosis: the predictive role of continuous glucose monitoring system

scientific article published on 13 January 2010

Adrenal steroidogenic defects in children with precocious pubarche

scientific article published on 01 January 1992

Adrenoleukodystrophy

scientific article published on 16 December 2010

Adult height in patients with permanent growth hormone deficiency with and without multiple pituitary hormone deficiencies

scientific article published on 9 May 2006

Albuminuria and insulin resistance in children with biopsy proven non-alcoholic fatty liver disease.

scientific article published on 26 February 2009

Altered B cell homeostasis and toll-like receptor 9-driven response in type 1 diabetes carriers of the C1858T PTPN22 allelic variant: implications in the disease pathogenesis

scientific article

Altered bone mineral density in patients with complete androgen insensitivity syndrome.

scientific article

An 8-year-old boy with autoimmune hepatitis and Candida onychosis as the first symptoms of autoimmune polyglandular syndrome (APS1): identification of a new homozygous mutation in the autoimmune regulator gene (AIRE).

scientific article published on 21 September 2007

An observational study comparing continuous subcutaneous insulin infusion (CSII) and insulin glargine in children with type 1 diabetes

scientific article published in July 2005

Analysis of the autoimmune regulator gene in patients with autoimmune non-APECED polyendocrinopathies.

scientific article

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy: report of seven additional sicilian patients and overview of the overall series from sicily.

scientific article

Autoimmune thyroid diseases in children

scientific article

BioEnterics intragastric balloon for treatment of morbid obesity in Prader-Willi syndrome: specific risks and benefits.

scientific article published in May 2008

Birth weight influences the clinical phenotype and the metabolic control of patients with type 1 diabetes (T1D).

scientific article

Bone and body composition analyzed by Dual-energy X-ray Absorptiometry (DXA) in clinical and nutritional evaluation of young patients with Cystic Fibrosis: a cross-sectional study

scientific article published on 28 September 2009

Bone mineral density in adolescent girls with early onset of anorexia nervosa

scientific article published on 20 February 2007

Brain Magnetic Resonance Imaging as First-Line Investigation for Growth Hormone Deficiency Diagnosis in Early Childhood

scientific article published on 23 September 2015

Cardiopulmonary response to exercise and cardiac assessment in patients with turner syndrome

scientific article published in April 2011

Cardiovascular fitness is impaired in children born small for gestational age

scientific article published on 01 May 2014

Cardiovascular fitness, insulin resistance and metabolic syndrome in severely obese prepubertal Italian children

scientific article

Central adrenal insufficiency in young adults with Prader-Willi syndrome

scientific article published on 11 May 2013

Central precocious puberty: treatment with triptorelin 11.25 mg

Children with Prader-Willi syndrome exhibit more evident meal-induced responses in plasma ghrelin and peptide YY levels than obese and lean children

scientific article published on 17 December 2009

Clinical Presentation and Autoimmune Characteristics of Very Young Children at the Onset of Type 1 Diabetes Mellitus ⬇️

scientific article published on November 1, 2010

Clinical features suggestive of non-classical 21-hydroxylase deficiency in children presenting with precocious pubarche

scientific article published on 01 January 2012

Computer use, free time activities and metabolic control in patients with type 1 diabetes

scientific article published on 07 April 2010

Congenital hyperinsulinism, neonatal diabetes and the risk of malignancies: an international collaborative study. Preliminary communication.

scientific article published in May 2015

Congenital primary adrenal insufficiency and selective aldosterone defects presenting as salt-wasting in infancy: a single center 10-year experience.

scientific article published on 02 August 2016

Diabetes-related autoantibodies in children with acute lymphoblastic leukemia

scientific article published on March 2012

Divergent phenotype of two siblings human leukocyte antigen identical, affected by nonclassical and classical congenital adrenal hyperplasia caused by 21-hydroxylase deficiency

scientific article published on 15 August 2006

Does Graves' disease during puberty influence adult bone mineral density?

scientific article published in January 2002

Early Glucose Derangement Detected by Continuous Glucose Monitoring and Progression of Liver Fibrosis in Nonalcoholic Fatty Liver Disease: An Independent Predictive Factor?

scientific article published on 28 November 2015

Early and progressive insulin resistance in young, non-obese cancer survivors treated with hematopoietic stem cell transplantation

scientific article

Early retesting by GHRH + arginine test shows normal GH response in most children with idiopathic GH deficiency

scientific article

Early-onset central diabetes insipidus is associated with de novo arginine vasopressin-neurophysin II or Wolfram syndrome 1 gene mutations

scientific article published on 01 April 2015

Effect of testosterone metabolites on ABC half-transporter relative gene expression in X-linked adrenoleukodystrophy.

scientific article

Effect of the enhancement of the cholinergic tone by pyridostigmine on the exercise-induced growth hormone release in man

scientific article published on 01 June 1993

Effects of exogenous hexacosanoic acid on biochemical myelin composition in weaning and post-weaning rats

scientific article

Effects of replacement therapy on sleep architecture in children with growth hormone deficiency

scientific article published on 19 March 2012

Efficacy and safety of growth hormone treatment in children with short stature: the Italian cohort of the GeNeSIS clinical study

scientific article published on 28 December 2015

Endocrine autoimmunity in Turner syndrome

scientific article published on 20 December 2013

Epidemiology, Presentation and Long-Term Evolution of Graves' Disease in Children, Adolescents and Young Adults with Turner Syndrome

scientific article published on 31 January 2014

Exercise-induced GH secretion is related to puberty

scientific article published on 30 September 2020

Exogenous growth hormone administration does not inhibit the growth hormone response to hexarelin in normal men

scientific article published on 01 November 1995

Expression of PD-1 Molecule on Regulatory T Lymphocytes in Patients with Insulin-Dependent Diabetes Mellitus.

scientific article

Family history and ethnicity influencing clinical presentation of type 1 diabetes in childhood.

scientific article published on 11 June 2015

Fatty liver and insulin resistance in children with hypobetalipoproteinemia: the importance of aetiology.

scientific article

Final height after growth hormone therapy in non-growth-hormone-deficient children with short stature

scientific article published in August 1994

Final height in girls with central idiopathic precocious puberty treated with gonadotropin-releasing hormone analog and oxandrolone

scientific article published on 31 January 2006

Frequent TSH receptor genetic alterations with variable signaling impairment in a large series of children with nonautoimmune isolated hyperthyrotropinemia.

scientific article published on 2 November 2011

Functional and structural analysis of four novel mutations of CYP21A2 gene in Italian patients with 21-hydroxylase deficiency

scientific article published on 05 May 2014

Glucose tolerance affects pubertal growth and final height of children with cystic fibrosis

scientific article

Glucose tolerance status in 510 children and adolescents attending an obesity clinic in Central Italy.

scientific article

Glutathione imbalance in patients with X-linked adrenoleukodystrophy ⬇️

scientific article published on May 22, 2013

Growth hormone (GH) response to combined pyridostigmine and GH-releasing hormone administration in patients with Prader-Labhard-Willi syndrome

scientific article published on 01 January 1993

Growth hormone response to growth hormone releasing hormone 1-40 in Turner's syndrome

scientific article published on 01 January 1987

Growth hormone response to oral clonidine test in normal and short children

scientific article published on 01 December 1993

Growth hormone response to physical exercise in growing patients with classic congenital adrenal hyperplasia

scientific article published on 24 June 2009

Growth hormone response to standard provocative stimuli and combined tests in very young children with Prader-Willi syndrome

scientific article published on 6 February 2014

Growth hormone treatment of adolescents with growth hormone deficiency (GHD) during the transition period: results of a survey among adult and paediatric endocrinologists from Italy. Endorsed by SIEDP/ISPED, AME, SIE, SIMA.

scientific article published on 2 November 2014

Growth hormone treatment started in the first year of life in infants with chronic renal failure

scientific article published on 22 January 2009

Growth hormone-releasing hormone resistance in pseudohypoparathyroidism type ia: new evidence for imprinting of the Gs alpha gene.

scientific article published in September 2003

High dose immunoglobulin IV treatment in adrenoleukodystrophy.

scientific article published on November 1994

How does long-term parenteral nutrition impact the bone mineral status of children with intestinal failure?

scientific article published on 23 December 2009

IGF2 methylation is associated with lipid profile in obese children

scientific article published on 15 June 2013

Impact of long-term use of eHealth systems in adolescents with type 1 diabetes treated with sensor-augmented pump therapy

scientific article published on 18 August 2015

Impaired energy expenditure despite normal cardiovascular capacity in children with type 1 diabetes

scientific article

Incidence of Type 1 Diabetes Has Doubled in Rome and the Lazio Region in the 0- to 14-Year Age-Group: A 6-Year Prospective Study (2004-2009)

scientific article published on 01 November 2010

Indirect methods for TSH reference interval: at last fit for purpose?

scientific article published on 01 January 2011

Influence of gender and pubertal stage at diagnosis on growth outcome in childhood thyrotoxicosis: results of a collaborative study

scientific article published in January 2006

Insulin sensitivity from preschool to school age in patients with severe obesity

scientific article

Inter-society consensus document on treatment and prevention of bronchiolitis in newborns and infants

scientific article

Interaction of free fatty acids and arginine on growth hormone secretion in man

scientific article published on 01 February 1994

Is subclinical adrenal failure in adrenoleukodystrophy/adrenomyeloneuropathy reversible?

scientific article published on 07 March 2011

Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6.

scientific article

Lipoid congenital adrenal hyperplasia by steroidogenic acute regulatory protein (STAR) gene mutation in an Italian infant: an uncommon cause of adrenal insufficiency.

scientific article

Long-term first line medical treatment in a 4-year-old girl with Xq26.3 microduplication-negative somatotropinoma. Case report and literature review.

scientific article published on 14 January 2016

Long-term results of the surgical treatment of craniopharyngioma: the experience at the Policlinico Gemelli, Catholic University, Rome

scientific article published on 2 July 2005

Maintenance of a normal meal-induced decrease in plasma ghrelin levels in children with Prader-Willi syndrome

scientific article published in March 2004

Metabolic Factors Affecting Residual Beta Cell Function Assessed by C-Peptide Secretion in Patients with Newly Diagnosed Type 1 Diabetes

scientific article published on 01 October 2006

Metabolic syndrome in adult patients with Prader-Willi syndrome.

scientific article published on 7 December 2012

Metabolic syndrome in children with Prader–Willi syndrome: the effect of obesity

scientific article published on 20 January 2010

Metabolic syndrome in italian obese children and adolescents: stronger association with central fat depot than with insulin sensitivity and birth weight

scientific article

Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism.

scientific article

Multiorgan autoimmunity in a Turner syndrome patient with partial monosomy 2q and trisomy 10p.

scientific article published on 20 December 2012

Multiple forms of hypogonadism of central, peripheral or combined origin in males with Prader-Willi syndrome.

scientific article published in January 2012

Mutations in the NHEJ component XRCC4 cause primordial dwarfism

scientific article published on 5 March 2015

NREM sleep architecture and relation to GH/IGF-1 axis in Laron syndrome

scientific article published on 14 April 2010

Neurophysiological abnormalities in adrenoleukodystrophy carriers. Evidence of different degrees of central nervous system involvement.

scientific article

New findings on X-linked Adrenoleukodystrophy: 5alpha-reductase isoform 2 relative gene expression is modified in affected fibroblasts

scientific article published in September 2004

No protective effect of calcitriol on beta-cell function in recent-onset type 1 diabetes: the IMDIAB XIII trial

scientific article

No thyroid abnormalities in patients submitted to cardiac catheterization in the first eighteen months of life

scientific article published on 21 December 2011

Nocturnal hypoglycaemia in ACTH and GH deficient children: role of continuous glucose monitoring.

scientific article published on 6 May 2013

Non-Alcoholic Fatty Liver Disease (NAFLD) in children and adolescents with Prader-Willi Syndrome (PWS).

scientific article

Non-conventional use of growth hormone therapy.

scientific article published on July 2006

Obese children with low birth weight demonstrate impaired beta-cell function during oral glucose tolerance test

scientific article published on 9 October 2009

Ovarian hyperandrogenism in adolescents and young women with type I diabetes is primarily related to birth weight and body mass index

scientific article published on 7 October 2011

Parathyroid hormone levels in pubertal uremic adolescents treated with growth hormone

scientific article published on 22 November 2003

Parental origin of Gsalpha mutations in the McCune-Albright syndrome and in isolated endocrine tumors

scientific article published in June 2004

Partially reversible hypopituitarism in an adolescent with a rathke cleft cyst

scientific article published on 30 October 2012

Pediatric neuroendocrinology. Preface

scientific article published on 01 January 2010

Pituicytoma and Cushing's Disease in a 7-Year-Old Girl: A Mere Coincidence?

scientific article

Pituitary magnetic resonance imaging in idiopathic and genetic growth hormone deficiency

scientific article published in April 2003

Pituitary-ovarian responses to leuprolide acetate testing in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

scientific article published in February 1996

Plasma levels of adrenomedullin in patients with adrenoleukodystrophy/adrenomyeloneuropathy

scientific article published on 10 February 2005

Pre-diabetes in Italian obese children and youngsters

scientific article published on 7 June 2011

Prenatal hydrocolpos in a male

Prevalence of elevated 1-h plasma glucose and its associations in obese youth.

scientific article published on 29 April 2016

Prolactinomas in children and adolescents. Clinical presentation and long-term follow-up

scientific article published on 01 August 1998

Pyridostigmine potentiates L-dopa- but not arginine- and galanin-induced growth hormone secretion in children

scientific article published on 01 July 1990

Raised C-reactive protein levels in patients with recent onset type 1 diabetes

scientific article published on 01 March 2007

Recombinant human GH replacement therapy in children with pseudohypoparathyroidism type Ia: first study on the effect on growth

scientific article published on 18 August 2010

Relationship of CYP21A2 genotype and serum 17-hydroxyprogesterone and cortisol levels in a large cohort of Italian children with premature pubarche

scientific article published on 06 June 2011

Reliability of provocative tests to assess growth hormone secretory status. Study in 472 normally growing children

scientific article published on 01 September 1996

Residual β-cell mass influences growth of prepubertal children with type 1 diabetes.

scientific article published on 18 September 2013

Responses to GHRH plus arginine test are more concordant with IGF-I circulating levels than responses to arginine and clonidine provocative tests

scientific article published on 04 October 2011

Results of early reevaluation of growth hormone secretion in short children with apparent growth hormone deficiency

scientific article

Routine screening by brain magnetic resonance imaging is not indicated in every girl with onset of puberty between the ages of 6 and 8 years

scientific article published in December 2014

Sexual dimorphism in growth and insulin-like growth factor-I in children with type 1 diabetes mellitus

scientific article published on 17 August 2014

Sexual dimorphism of body composition and insulin sensitivity across pubertal development in obese Caucasian subjects

scientific article published on 16 February 2009

Simpson-Golabi-Behmel syndrome: an X-linked encephalo-tropho-schisis syndrome. 1988.

scientific article published in November 2013

Sleep characteristics in children with growth hormone deficiency

scientific article

Somatostatin infusion withdrawal: studies in the acute and recovery phase of anorexia nervosa, and in obesity.

scientific article

Somatostatinergic tone in children on chronic haemodialysis and after renal transplantation

scientific article published on 01 July 1991

Somatotropic function in short stature: evaluation by integrated auxological and hormonal indices in 214 children. The Italian Collaborative Group of Neuroendocrinology

scientific article published on 01 July 1993

Streptococcus pneumoniae oropharyngeal colonization in school-age children and adolescents with type 1 diabetes mellitus: Impact of the heptavalent pneumococcal conjugate vaccine

scientific article

Succinic semialdehyde dehydrogenase deficiency: clinical, biochemical and molecular characterization of a new patient with severe phenotype and a novel mutation

scientific article published on 01 March 2006

Sulfonylurea treatment outweighs insulin therapy in short-term metabolic control of patients with permanent neonatal diabetes mellitus due to activating mutations of the KCNJ11 (KIR6.2) gene

article

Susceptibility to oxidation of plasma low-density lipoprotein in X-linked adrenoleukodystrophy: effects of simvastatin treatment

scientific article published on 01 December 2000

Systematic review of metformin use in obese nondiabetic children and adolescents

scientific article published on 26 July 2013

Th 1 cytokine production by peripheral blood mononuclear cells in X-linked adrenoleukodystrophy

scientific article published on 01 January 2001

The ALBA project: an evaluation of needs, management, fears of Italian young patients with type 1 diabetes in a school setting and an evaluation of parents' and teachers' perceptions

scientific article published on 3 April 2011

The GHRH + arginine stimulated pituitary GH secretion in children and adults with Prader-Willi syndrome shows age- and BMI-dependent and genotype-related differences.

scientific article published on 19 September 2013

The Gly972-->Arg IRS-1 variant is associated with type 1 diabetes in continental Italy

scientific article published in March 2003

The Italian National Survey for Prader–Willi syndrome: An epidemiologic study

article

The effect of short-term growth hormone or low-dose oxandrolone treatment in boys with constitutional growth delay

scientific article published on 01 October 1991

The growth hormone response to hexarelin in children: reproducibility and effect of sex steroids.

scientific article

The growth hormone response to pyridostigmine plus growth hormone releasing hormone is not influenced by pubertal maturation

scientific article

The impact of real practice inappropriateness and devices' inefficiency to variability in growth hormone consumption

scientific article

The natural history of the normal/mild elevated TSH serum levels in children and adolescents with Hashimoto's thyroiditis and isolated hyperthyrotropinaemia: a 3-year follow-up

scientific article published on 01 March 2012

The response to gonadotropin releasing hormone (GnRH) stimulation test does not predict the progression to true precocious puberty in girls with onset of premature thelarche in the first three years of life.

scientific article

Thyroid autoimmunity in children with coeliac disease: a prospective survey

scientific article published on 23 August 2011

Thyroid function tests in obese prepubertal children: correlations with insulin sensitivity and body fat distribution

scientific article published on 26 July 2012

Thyroid morphology and subclinical hypothyroidism in children and adolescents with Williams syndrome

scientific article published on 01 January 2007

Triple A (Allgrove) syndrome: an unusual association with syringomyelia

scientific article published on 24 June 2013

Two novel missense mutations causing adrenoleukodystrophy in Italian patients

article

Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome

scientific article (publication date: November 2000)

Unilateral cryptorchidism corrected in prepubertal age: evaluation of sperm parameters, hormones, and antisperm antibodies in adult age

scientific article published on 01 May 1997

Use of GLP-1 receptor agonists in Prader-Willi Syndrome: report of six cases

scientific article published on 01 April 2014

Use of metformin in pediatric age.

scientific article published on 03 March 2011

VOIDING DYSFUNCTION IN X-LINKED ADRENOLEUKODYSTROPHY: SYMPTOM SCORE AND URODYNAMIC FINDINGS

scientific article published on 01 June 2004

XK-aprosencephaly and related entities

scientific article published on 01 November 2005

ZnT8 antibodies in patients with cystic fibrosis: An expression of secondary beta-cell damage?

scientific article published on 25 March 2013

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