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Visual evoked potentials in succinate semialdehyde dehydrogenase (SSADH) deficiency

Journal of inherited metabolic disease, 2009-12, Vol.32 (Suppl 1), p.201-205

2009

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Genotype-Phenotype Relationship in Human ATP6i-Dependent Autosomal Recessive Osteopetrosis

The American journal of pathology, 2003, Vol.162 (1), p.57-68

2003

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The ketogenic diet in children, adolescents and young adults with refractory epilepsy: an Italian multicentric experience

Epilepsy research, 2002-02, Vol.48 (3), p.221-227

2002

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Vigabatrin improves paroxysmal dystonia in succinic semialdehyde dehydrogenase deficiency

Neurology, 2007-04, Vol.68 (16), p.1320-1321

2007

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Recurrent fatal pulmonary alveolar proteinosis after heart-lung transplantation in a child with lysinuric protein intolerance

The Journal of pediatrics, 2004-08, Vol.145 (2), p.268-272

2004

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HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis‐like presentation

Journal of inherited metabolic disease, 2006-02, Vol.29 (1), p.186-189

2006

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Fatal infantile leukodystrophy: a severe variant of CACH/VWM syndrome, allelic to chromosome 3q27

Neurology, 2001-07, Vol.57 (2), p.265-270

2001

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Clinical Features of 52 Neonates with Hyperinsulinism

The New England journal of medicine, 1999-04, Vol.340 (15), p.1169-1175

1999

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A Gene on Chromosome 11q23 Coding for a Putative Glucose- 6-Phosphate Translocase Is Mutated in Glycogen-Storage Disease Types Ib and Ic

American journal of human genetics, 1998-10, Vol.63 (4), p.976-983

1998

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Novel OCTN2 mutations: No genotype-phenotype correlations: Early carnitine therapy prevents cardiomyopathy

American journal of medical genetics, 2002-08, Vol.111 (3), p.271-284

2002

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A single‐residue mutation, G203E, causes 3‐hydroxy‐3‐methylglutaric aciduria by occluding the substrate channel in the 3D structural model of HMG‐CoA lyase

Journal of inherited metabolic disease, 2006-02, Vol.29 (1), p.64-70

2006

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Hyperinsulinism and hyperammonemia syndrome: Report of twelve unrelated patients

Pediatric research, 2001-09, Vol.50 (3), p.353-357

2001

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Ethylmalonic encephalopathy: Further clinical and neuroradiological characterization

Journal of neurology, 2002-10, Vol.249 (10), p.1446-1450

2002

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Phenotypic heterogeneity in two unrelated Danon patients associated with the same LAMP-2 gene mutation

Neuropediatrics, 2005-10, Vol.36 (5), p.309

2005

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

Clinical genetics, 2006-03, Vol.69 (3), p.294-296

2006

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Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency

Genetics in medicine, 2017-09, Vol.19 (9), p.967-974

2017

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Biochemical and Molecular Genetic Characteristics of the Severe Form of Tyrosine Hydroxylase Deficiency

Clinical chemistry (Baltimore, Md.), 1999-12, Vol.45 (12), p.2073-2078

1999

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Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy

Pediatric research, 1990-09, Vol.28 (3), p.247-255

1990

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Molecular studies in Portuguese patients with Smith–Lemli–Opitz syndrome and report of three new mutations in DHCR7

Molecular genetics and metabolism, 2005-07, Vol.85 (3), p.228-235

2005

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Analysis of Sanfilippo A gene mutations in a large pedigree

Clinical genetics, 2003-04, Vol.63 (4), p.314-318

2003

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Carbohydrate‐deficient glycoprotein syndromes: The Italian experience

Journal of inherited metabolic disease, 2000-06, Vol.23 (4), p.391-395

2000

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N-acetylaspartylglutamate in Canavan disease : an adverse effector?

European journal of pediatrics, 1999-05, Vol.158 (5), p.406-409

1999

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New clinical phenotype of branched-chain acyl-CoA oxidation defect

The Lancet (British edition), 1991-12, Vol.338 (8781), p.1522-1523

1991

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A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts

The Journal of pediatrics, 1994, Vol.124 (1), p.79-86

1994

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Visual evoked potentials in succinate semialdehyde dehydrogenase (SSADH) deficiency

Genotype-Phenotype Relationship in Human ATP6i-Dependent Autosomal Recessive Osteopetrosis

The ketogenic diet in children, adolescents and young adults with refractory epilepsy: an Italian multicentric experience

Vigabatrin improves paroxysmal dystonia in succinic semialdehyde dehydrogenase deficiency

Recurrent fatal pulmonary alveolar proteinosis after heart-lung transplantation in a child with lysinuric protein intolerance

HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis‐like presentation

Fatal infantile leukodystrophy: a severe variant of CACH/VWM syndrome, allelic to chromosome 3q27

Clinical Features of 52 Neonates with Hyperinsulinism

A Gene on Chromosome 11q23 Coding for a Putative Glucose- 6-Phosphate Translocase Is Mutated in Glycogen-Storage Disease Types Ib and Ic

Novel OCTN2 mutations: No genotype-phenotype correlations: Early carnitine therapy prevents cardiomyopathy

A single‐residue mutation, G203E, causes 3‐hydroxy‐3‐methylglutaric aciduria by occluding the substrate channel in the 3D structural model of HMG‐CoA lyase

Hyperinsulinism and hyperammonemia syndrome: Report of twelve unrelated patients

Ethylmalonic encephalopathy: Further clinical and neuroradiological characterization

Phenotypic heterogeneity in two unrelated Danon patients associated with the same LAMP-2 gene mutation

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

Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency

Biochemical and Molecular Genetic Characteristics of the Severe Form of Tyrosine Hydroxylase Deficiency

Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy

Molecular studies in Portuguese patients with Smith–Lemli–Opitz syndrome and report of three new mutations in DHCR7

Analysis of Sanfilippo A gene mutations in a large pedigree

Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsy

Carbohydrate‐deficient glycoprotein syndromes: The Italian experience

N-acetylaspartylglutamate in Canavan disease : an adverse effector?

New clinical phenotype of branched-chain acyl-CoA oxidation defect

A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts

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