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List of works by Rossella Parini

A difficult diagnosis of lysinuric protein intolerance: association with glucose‐6‐phosphate dehydrogenase deficiency ⬇️

scientific article published on January 1, 1991

A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation

scientific article published on 30 October 2014

A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy

scientific article published on 16 November 2018

Acid Ceramidase Deficiency is characterized by a unique plasma cytokine and ceramide profile that is altered by therapy.

scientific article published on 30 November 2016

Acute, severe cardiomyopathy as main symptom of late-onset very long-chain acyl-coenzyme A dehydrogenase deficiency

scientific article published on 01 December 1998

Allogeneic bone marrow stem cell transplantation following CD34+ immunomagnetic enrichment in patients with inherited metabolic storage diseases

scientific article published on 01 May 2003

Analysis of Renal and Cardiac Outcomes in Male Participants in the Fabry Outcome Survey Starting Agalsidase Alfa Enzyme Replacement Therapy Before and After 18 Years of Age

scientific article published on 03 June 2020

Bilateral nuclear cataracts as the first neonatal sign of Fanconi-Bickel syndrome

scientific article published on 12 August 2006

Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy.

scientific article published on 5 April 2011

Carbamoyl phosphate synthetase 1 deficiency in Italy: clinical and genetic findings in a heterogeneous cohort.

scientific article

Carbohydrate-deficient glycoprotein syndromes: the Italian experience

scientific article published on 01 June 2000

Changing Characteristics of Late-Onset Pompe Disease Patients in Italy: Data from the Pompe Registry

scientific article

Chronic liver involvement in urea cycle disorders

scientific article published on 25 August 2019

Clinical and genetic variability of glycogen storage disease type IIIa: seven novel AGL gene mutations in the Mediterranean area.

scientific article

Clinical efficacy of enzyme replacement therapy in paediatric Hunter patients, an independent study of 3.5 years

scientific article

Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey.

scientific article

Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data.

scientific article published on 20 December 2014

Clinical outcomes in a subpopulation of adults with Morquio A syndrome: results from a long-term extension study of elosulfase alfa.

scientific article published on 23 May 2017

Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency

scientific article

Clinical pharmacology of netilmicin in preterm and term newborn infants

scientific article published on 01 April 1985

Coma and respiratory failure in a child with severe vitamin B(12) deficiency

scientific article

Combined liver-kidney transplantation in glycogen storage disease Ia: a case beyond the guidelines

scientific article published on 01 May 2007

Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopathy

scientific article

Comprehensive Evaluation of Plasma 7-Ketocholesterol and Cholestan-3β,5α,6β-Triol in an Italian Cohort of Patients Affected by Niemann-Pick Disease due to NPC1 and SMPD1 Mutations

scientific article published on 11 January 2016

Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy

scientific article published on 19 June 2012

Craniovertebral junction pathological features and their management in the mucopolysaccharidoses.

scientific article published on January 2014

Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria

scientific article

Delphi consensus on the current clinical and therapeutic knowledge on Anderson-Fabry disease

scientific article published on 12 August 2014

Diseases of ganglioside biosynthesis: An expanding group of congenital disorders of glycosylation

scientific article published on 28 June 2018

Easy-to-use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment

scientific article published on 01 August 2018

Effects of enzyme replacement therapy in Fabry disease--a comprehensive review of the medical literature.

scientific article

Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective study

scientific article published on 01 July 2005

Enzymatic replacement therapy for Hunter disease: Up to 9 years experience with 17 patients.

scientific article published on 22 April 2015

Enzyme replacement therapy outcomes across the disease spectrum: Findings from the mucopolysaccharidosis VI Clinical Surveillance Program

scientific article published on 08 April 2019

Enzyme replacement therapy with agalsidase alfa in a cohort of Italian patients with Anderson-Fabry disease: testing the effects with the Mainz Severity Score Index.

scientific article published on 24 April 2008

Enzyme replacement therapy with agalsidase alfa in children with Fabry disease

scientific article published on 01 January 2007

Enzyme replacement therapy: efficacy and limitations

scientific article published on 16 November 2018

Epilepsia partialis continua and generalized nonconvulsive status epilepticus during the course of argininemia: a report on two cases.

scientific article published on 20 November 2013

Epilepsy and argininosuccinic aciduria

scientific article published on 01 June 2011

Fabry disease and the skin: data from FOS, the Fabry outcome survey.

scientific article

Fabry disease: beyond men

scientific article published on 01 April 2008

Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene.

scientific article published on 25 May 2011

Facing up to limits: a lesson from the Charlie Gard case.

scientific article published on 13 December 2017

Familiar unbalanced complex rearrangements involving 13 p-arm: description of two cases

scientific article published on 06 September 2018

First manifestation of citrullinemia type I as differential diagnosis to postpartum psychosis in the puerperal period

scientific article published on 14 December 2009

Functional analysis of 11 novel GBA alleles

scientific article

Functional studies of new GLA gene mutations leading to conformational Fabry disease.

scientific article

GALNS gene expression profiling in Morquio A patients' fibroblasts.

scientific article

GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings

scientific article published on 7 April 2011

Genetic analysis in nine unrelated Italian patients affected by OTC deficiency: detection of novel mutations in the OTC gene

scientific article published on 01 June 2002

Growth Charts for Individuals with Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome)

scientific article

Home infusion program with enzyme replacement therapy for Fabry disease: The experience of a large Italian collaborative group

scientific article

Homozygous MTTP and APOB mutations may lead to hepatic steatosis and fibrosis despite metabolic differences in congenital hypocholesterolemia

scientific article published on 16 May 2014

IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles.

scientific article

Impact of long-term elosulfase alfa on activities of daily living in patients with Morquio A syndrome in an open-label, multi-center, phase 3 extension study.

scientific article published on 5 December 2017

Impact of long-term elosulfase alfa treatment on respiratory function in patients with Morquio A syndrome.

scientific article published on 23 August 2016

Impaired bone metabolism in glycogen storage disease type 1 is associated with poor metabolic control in type 1a and with granulocyte colony-stimulating factor therapy in type 1b.

scientific article

Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey

scientific article

Improvement of Cardiomyopathy After High-Fat Diet in Two Siblings with Glycogen Storage Disease Type III

scientific article

Infantile sialic acid storage disease: serial ultrasound and magnetic resonance imaging features.

scientific article published on March 2003

Influence of Intrauterine Maturation on the Pharmacokinetics of Amikacin in the Neonatal Period

scientific article published on 01 October 1982

Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance.

scientific article published on 24 February 2012

International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome

scientific article published on 23 October 2018

Intrafamilial phenotypic variability in four families with Anderson-Fabry disease

scientific article published on 20 September 2013

Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS).

scientific article

Intravenous Enzyme Replacement Therapy in Mucopolysaccharidoses: Clinical Effectiveness and Limitations

scientific article published on 23 April 2020

Intravenous enzyme replacement therapy: hospital vs home.

scientific article published on July 2010

Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy

scientific article published on 8 February 2018

Longitudinal analysis of endurance and respiratory function from a natural history study of Morquio A syndrome.

scientific article published on November 2014

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

scientific article

Medium-chain triglyceride loading test in carnitine-acylcarnitine translocase deficiency: insights on treatment

scientific article published on 01 August 1999

Metabolic screening for the newborn.

scientific article published on October 2011

Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group.

scientific article

Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease

article

Modelling the resource implications of managing adults with Fabry disease in Italy.

scientific article published on 8 February 2011

Molecular analysis of 30 mucopolysaccharidosis type I patients: evaluation of the mutational spectrum in Italian population and identification of 13 novel mutations

scientific article published on 01 September 2002

Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.

scientific article

Molecular characterisation of GSD III subjects and identification of six novel mutations in AGL.

scientific article published in December 2002

Molecular markers for the follow-up of enzyme-replacement therapy in mucopolysaccharidosis type VI disease

scientific article published on 01 March 2008

Monitoring of amikacin in the neonate

scientific article published on 01 June 1983

Mucopolysaccharidosis VI: the Italian experience

scientific article published on 07 January 2009

Multidetector computed tomography (MDCT) for preoperative airway assessment in children with mucopolysaccharidoses.

scientific article published in August 2011

Multidisciplinary management of Hunter syndrome.

scientific article

Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcripts

scientific article published on 13 May 2006

Muscle MRI of classic infantile pompe patients: Fatty substitution and edema-like changes

scientific article published on 26 September 2016

Mutational analysis of the AGL gene: five novel mutations in GSD III patients

scientific article published on 01 October 2003

Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy

scientific article

Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis

scientific article published on 17 May 2012

Nasogastric drip feeding as the only treatment of neonatal maple syrup urine disease

scientific article published on 01 August 1993

Natural history and effects of enzyme replacement therapy in children and adolescents with Fabry disease

Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years.

scientific article published on 12 November 2011

Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations

scientific article

Ototoxicity of aminoglycoside antibiotics in infants and children.

scientific article published on September 1982

Paediatric Fabry disease: prognostic significance of ocular changes for disease severity

scientific article

Pitfalls in the detection of gross gene rearrangements using MLPA in Fabry disease.

scientific article published on 31 October 2015

Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content

scientific article published on 27 November 2019

Prevalence of anti-adeno-associated virus serotype 8 neutralizing antibodies and arylsulfatase B cross-reactive immunologic material in mucopolysaccharidosis VI patient candidates for a gene therapy trial.

scientific article

Progression of renal damage in glycogen storage disease type I is associated to hyperlipidemia: a multicenter prospective Italian study

scientific article published on 29 January 2015

Quality of life of Hurler syndrome patients after successful hematopoietic stem cell transplantation

scientific article published on 07 November 2017

Recognition of alpha-mannosidosis in paediatric and adult patients: Presentation of a diagnostic algorithm from an international working group

scientific article published on 31 January 2019

Recommendations on reintroduction of agalsidase Beta for patients with fabry disease in europe, following a period of shortage

scientific article published on 14 July 2012

Reconstitution of lymphocyte subpopulations in children with inherited metabolic storage diseases after haematopoietic cell transplantation

scientific article published on 01 July 2005

Resting energy expenditure in argininosuccinic aciduria and in other urea cycle disorders

scientific article published on 09 July 2019

Safety and clinical activity of elosulfase alfa in pediatric patients with Morquio A syndrome (mucopolysaccharidosis IVA) less than 5 y.

scientific article

Safety of agalsidase alfa in patients with Fabry disease under 7 years.

scientific article published on 12 January 2011

Safety of anesthesia for children with mucopolysaccharidoses: A retrospective analysis of 54 patients

scientific article published on 23 April 2018

Segregation analysis in a family at risk for the Maroteaux-Lamy syndrome conclusively reveals c.1151G>A (p.S384N) as to be a polymorphism.

scientific article

Severe Neonatal Metabolic Decompensation in Methylmalonic Acidemia Caused by CblD Defect ⬇️

scientific article published on May 19, 2013

Severe neonatal onset of glycogenosis type IV: clinical and laboratory findings leading to diagnosis in two siblings.

scientific article published in January 2004

Spherophakia associated with molybdenum cofactor deficiency

scientific article published on 01 December 1997

Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance

scientific article

Sudden infant death and multiple acyl-CoA dehydrogenation disorders

scientific article published on 01 May 1995

Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment

scientific article

The Fanconi-Bickel syndrome: a case of neonatal onset.

scientific article published in May 2004

The Morquio A Clinical Assessment Program: baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects.

scientific article published on 9 February 2013

The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents.

scientific article published on 20 September 2003

The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).

scientific article published on 31 March 2017

The effect of idursulfase on growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS) ⬇️

scientific article published on March 14, 2013

The natural course and the impact of therapies of cardiac involvement in the mucopolysaccharidoses

scientific article published on 06 February 2009

The natural history of growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS).

scientific article

The new frame for Mucopolysaccharidoses

scientific article published on 16 November 2018

Therapeutic goals in the treatment of Fabry disease.

scientific article published in November 2010

Total loss of GM3 synthase activity by a normally processed enzyme in a novel variant and in all ST3GAL5 variants reported to cause a distinct congenital disorder of glycosylation

scientific article published on 01 March 2019

Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedure

scientific article published on 18 January 2019

Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease

scientific article published on 18 June 2008

Unexplained hypoglycemia during continuous nocturnal gastric drip-feeding in a patient with glycogen storage disease type ia: is it a dumping-like syndrome?

scientific article published on 13 July 2012

Vagal Nerve Stimulation in the Treatment of Drug-Resistant Epileptic Encephalopathies in Inborn Errors of Metabolism: Report of 2 Cases.

scientific article

Vitamin E Improves Clinical Outcome of Patients Affected by Glycogen Storage Disease Type Ib.

scientific article published on 30 June 2015

Vitamin E supplementation improves neutropenia and reduces the frequency of infections in patients with glycogen storage disease type 1b.

scientific article

Water Apparent Diffusion Coefficient and T2 Changes in the Acute Stage of Maple Syrup Urine Disease: Evidence of Intramyelinic and Vasogenic‐Interstitial Edema ⬇️

scientific article published on April 1, 2003

[Cardiologists and mucopolysaccharidoses. Recommendations of GICEM (Cardiology Experts on Metabolic Disease Italian Group) for diagnosis, follow-up and cardiological management]

scientific article published on 01 September 2017

[Fabry disease in Italy: first epidemiologic and collaborative study]

scientific article published on 01 October 2004

[How does the landscape change in lysosomal storage disease]

scientific article published on 01 September 2007

beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement

scientific article published on 01 January 2000

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