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Niemann-Pick C1 Disease: Correlations between NPC1 Mutations, Levels of NPC1 Protein, and Phenotypes Emphasize the Functional Significance of the Putative Sterol-Sensing Domain and of the Cysteine-Rich Luminal Loop

American journal of human genetics, 2001-06, Vol.68 (6), p.1373-1385

2001

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Niemann-Pick Disease Type C: Spectrum of HE1 Mutations and Genotype/Phenotype Correlations in the NPC2 Group

American journal of human genetics, 2001-11, Vol.69 (5), p.1013-1021

2001

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New GLB1 mutation in siblings with Morquio type B disease presenting with mental regression

Molecular genetics and metabolism, 2009-03, Vol.96 (3), p.148-148

2009

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The diagnosis of inherited metabolic diseases by microarray gene expression profiling

Orphanet journal of rare diseases, 2010-12, Vol.5 (1), p.34-34, Article 34

2010

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Identification of HE1 as the Second Gene of Niemann-Pick C Disease

Science (American Association for the Advancement of Science), 2000-12, Vol.290 (5500), p.2298-2301

2000

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Mutations c.459 + 1G > A and p.P426L in the ARSA gene: Prevalence in metachromatic leukodystrophy patients from European countries

Molecular genetics and metabolism, 2005-11, Vol.86 (3), p.353-359

2005

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Complementation studies in Niemann-Pick disease type C indicate the existence of a second group

Journal of medical genetics, 1994-04, Vol.31 (4), p.317-320

1994

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46. The natural history of Niemann–Pick disease type C

Molecular genetics and metabolism, 2008-02, Vol.93 (2), p.25-25

2008

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Early infantile form of galactosialidosis in a female baby with a prenatal diagnosis of fetal ascites: First case in Brazil

Genetics and molecular biology, 1998-12, Vol.21 (4), p.443-446

1998

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Neurodegenerative course in ceramidase deficiency (Farber disease) correlates with the residual lysosomal ceramide turnover in cultured living patient cells

Journal of the neurological sciences, 1995-12, Vol.134 (1), p.108-114

1995

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Sandhoff disease in Cyprus : population screening by biochemical and DNA analysis indicates a high frequency of carriers in the Maronite community

Human genetics, 2000-07, Vol.107 (1), p.12-17

2000

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Molecular analysis of patients with β-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII

American journal of human genetics, 1996-03, Vol.58 (3), p.457-471

1996

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Identification of seven novel mutations associated with metachromatic leukodystrophy

Human mutation, 1995, Vol.6 (2), p.170-176

1995

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Salla disease ‐ rare or underdiagnosed?

Developmental medicine and child neurology, 1997-03, Vol.39 (3), p.153-157

1997

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Abnormal lysosomal sorting with an enhanced secretion of cathepsin D precursor molecules bearing monoester phosphate groups

European journal of cell biology, 1998-10, Vol.77 (2), p.134-141

1998

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Frequency of arylsulphatase A pseudodeficiency associated mutations in a healthy population

Journal of medical genetics, 1994-09, Vol.31 (9), p.667-671

1994

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A simple method for screening for Farber disease on cultured skin fibroblasts

Clinica chimica acta, 1996-02, Vol.245 (1), p.61-71

1996

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Complementation analysis in patients with the clinical phenotype of a generalised peroxisomal disorder

Journal of medical genetics, 1996-04, Vol.33 (4), p.295-299

1996

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Prevalence of common mutations in the arylsulphatase A gene in metachromatic leukodystrophy patients diagnosed in Britain

Human genetics, 1993-03, Vol.91 (1), p.73-77

1993

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Missense mutations in the arylsulphatase A genes of metachromatic leukodystrophy patients

Human molecular genetics, 1993-12, Vol.2 (12), p.2117-2121

1993

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The arylsulphatase A gene and molecular genetics of metachromatic leucodystrophy

Journal of medical genetics, 1994-09, Vol.31 (9), p.663-666

1994

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Arylsulphatase A pseudo-deficiency in vascular dementia and Alzheimerʼs disease

Neuroreport, 1997-07, Vol.8 (11), p.2613-2616

1997

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The entrapment of mannose-terminated glucocerebrosidase (Alglucerase) in human carrier erythrocytes

Biochemical Society transactions, 1996-08, Vol.24 (3), p.441S-441S

1996

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Enzyme immunoassay of beta-hexosaminidase A and B in serum: carrier detection of GM2-gangliosidoses, and equivalence of enzyme activity and enzyme protein reactivity

Clinical chemistry (Baltimore, Md.), 1993-07, Vol.39 (7), p.1412-1415

1993

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Beta-hexosaminidase splice site mutation has a high frequency among non-Jewish Tay-Sachs disease carriers from the British Isles

Journal of medical genetics, 1992-08, Vol.29 (8), p.563-567

1992

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Niemann-Pick C1 Disease: Correlations between NPC1 Mutations, Levels of NPC1 Protein, and Phenotypes Emphasize the Functional Significance of the Putative Sterol-Sensing Domain and of the Cysteine-Rich Luminal Loop

Niemann-Pick Disease Type C: Spectrum of HE1 Mutations and Genotype/Phenotype Correlations in the NPC2 Group

New GLB1 mutation in siblings with Morquio type B disease presenting with mental regression

The diagnosis of inherited metabolic diseases by microarray gene expression profiling

Identification of HE1 as the Second Gene of Niemann-Pick C Disease

Mutations c.459 + 1G > A and p.P426L in the ARSA gene: Prevalence in metachromatic leukodystrophy patients from European countries

Complementation studies in Niemann-Pick disease type C indicate the existence of a second group

46. The natural history of Niemann–Pick disease type C

Early infantile form of galactosialidosis in a female baby with a prenatal diagnosis of fetal ascites: First case in Brazil

Neurodegenerative course in ceramidase deficiency (Farber disease) correlates with the residual lysosomal ceramide turnover in cultured living patient cells

Sandhoff disease in Cyprus : population screening by biochemical and DNA analysis indicates a high frequency of carriers in the Maronite community

Molecular analysis of patients with β-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII

Identification of seven novel mutations associated with metachromatic leukodystrophy

Salla disease ‐ rare or underdiagnosed?

Abnormal lysosomal sorting with an enhanced secretion of cathepsin D precursor molecules bearing monoester phosphate groups

Frequency of arylsulphatase A pseudodeficiency associated mutations in a healthy population

A simple method for screening for Farber disease on cultured skin fibroblasts

Complementation analysis in patients with the clinical phenotype of a generalised peroxisomal disorder

Prevalence of common mutations in the arylsulphatase A gene in metachromatic leukodystrophy patients diagnosed in Britain

Missense mutations in the arylsulphatase A genes of metachromatic leukodystrophy patients

The arylsulphatase A gene and molecular genetics of metachromatic leucodystrophy

Arylsulphatase A pseudo-deficiency in vascular dementia and Alzheimerʼs disease

The entrapment of mannose-terminated glucocerebrosidase (Alglucerase) in human carrier erythrocytes

Enzyme immunoassay of beta-hexosaminidase A and B in serum: carrier detection of GM2-gangliosidoses, and equivalence of enzyme activity and enzyme protein reactivity

Beta-hexosaminidase splice site mutation has a high frequency among non-Jewish Tay-Sachs disease carriers from the British Isles

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