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Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)

Neurology, 2004-09, Vol.63 (6), p.1053-1058

2004

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Sanfilippo syndrome: A mini-review

Journal of inherited metabolic disease, 2008-04, Vol.31 (2), p.240-252

2008

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Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency?

Neurology, 2008-05, Vol.70 (20), p.1876-1882

2008

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A fluorimetric enzyme assay for the diagnosis of MPS II (Hunter disease)

Journal of inherited metabolic disease, 2001-11, Vol.24 (6), p.675-680

2001

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Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype

Neurology, 2007-01, Vol.68 (2), p.110-115

2007

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Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands

Molecular genetics and metabolism, 2008-02, Vol.93 (2), p.104-111

2008

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A new fluorimetric enzyme assay for the diagnosis of Niemann–Pick A/B, with specificity of natural sphingomyelinase substrate

Journal of inherited metabolic disease, 2005-01, Vol.28 (5), p.733-741

2005

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Decreased oxidative phosphorylation and PGAM deficiency in horses suffering from atypical myopathy associated with acquired MADD

Molecular genetics and metabolism, 2011-11, Vol.104 (3), p.273-278

2011

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Elevated plasma chitotriosidase activity in various lysosomal storage disorders

Journal of inherited metabolic disease, 1995-11, Vol.18 (6), p.717-722

1995

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A diagnostic protocol for adult-onset glycogen storage disease type II

Neurology, 1999-03, Vol.52 (4), p.851-851

1999

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Niemann-Pick disease type A and B are clinically but also enzymatically heterogeneous: pitfall in the laboratory diagnosis of sphingomyelinase deficiency associated with the mutation Q292 K

Neuropediatrics, 2003-12, Vol.34 (6), p.301-306

2003

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

Journal of inherited metabolic disease, 2004-01, Vol.27 (5), p.609-620

2004

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Enzyme analysis for Pompe disease in leukocytes; superior results with natural substrate compared with artificial substrates

Journal of inherited metabolic disease, 2009-06, Vol.32 (3), p.416-423

2009

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Localisation of a gene for mucopolysaccharidosis IIIC to the pericentromeric region of chromosome 8

Journal of medical genetics, 2004-12, Vol.41 (12), p.941-944

2004

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Biochemical characteristics and increased tetraglucoside excretion in patients with phosphorylase kinase deficiency

Journal of inherited metabolic disease, 2005-01, Vol.28 (5), p.703-706

2005

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External quality assurance programme for enzymatic analysis of lysosomal storage diseases: A pilot study

Journal of inherited metabolic disease, 2005-12, Vol.28 (6), p.979-990

2005

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Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting

Molecular genetics and metabolism, 2008-03, Vol.93 (3), p.275-281

2008

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Juvenile hyaline fibromatosis: clinical heterogeneity in three patients

Dermatology (Basel), 1999, Vol.198 (1), p.18-25

1999

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A Novel Disorder of N-Glycosylation Due to Phosphomannose Isomerase Deficiency

Biochemical and biophysical research communications, 1998-04, Vol.245 (1), p.38-42

1998

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Congenital hepatic fibrosis in 3 siblings with phosphomannose isomerase deficiency

Virchows Archiv : an international journal of pathology, 2000-07, Vol.437 (1), p.101-105

2000

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Pitfalls in the diagnosis of multiple sulfatase deficiency

Neuropediatrics, 2001-02, Vol.32 (1), p.38-40

2001

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A Rapid Fluorogenic Palmitoyl-Protein Thioesterase Assay: Pre- and Postnatal Diagnosis of INCL

Molecular genetics and metabolism, 1999-04, Vol.66 (4), p.240-244

1999

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A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variants

Journal of medical genetics, 1999-06, Vol.36 (6), p.471-474

1999

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Determination of acid α-glucosidase protein : Evaluation as a screening marker for Pompe disease and other lysosomal storage disorders

Clinical chemistry (Baltimore, Md.), 2000-09, Vol.46 (9), p.1318-1325

2000

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Glycogenosis type II (acid maltase deficiency)

Muscle & nerve, 1995, Vol.18 (S14), p.S61-S69

1995

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Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)

Sanfilippo syndrome: A mini-review

Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency?

A fluorimetric enzyme assay for the diagnosis of MPS II (Hunter disease)

Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype

Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands

A new fluorimetric enzyme assay for the diagnosis of Niemann–Pick A/B, with specificity of natural sphingomyelinase substrate

Decreased oxidative phosphorylation and PGAM deficiency in horses suffering from atypical myopathy associated with acquired MADD

Elevated plasma chitotriosidase activity in various lysosomal storage disorders

A diagnostic protocol for adult-onset glycogen storage disease type II

Niemann-Pick disease type A and B are clinically but also enzymatically heterogeneous: pitfall in the laboratory diagnosis of sphingomyelinase deficiency associated with the mutation Q292 K

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

Enzyme analysis for Pompe disease in leukocytes; superior results with natural substrate compared with artificial substrates

Localisation of a gene for mucopolysaccharidosis IIIC to the pericentromeric region of chromosome 8

Biochemical characteristics and increased tetraglucoside excretion in patients with phosphorylase kinase deficiency

External quality assurance programme for enzymatic analysis of lysosomal storage diseases: A pilot study

Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting

Juvenile hyaline fibromatosis: clinical heterogeneity in three patients

A Novel Disorder of N-Glycosylation Due to Phosphomannose Isomerase Deficiency

Congenital hepatic fibrosis in 3 siblings with phosphomannose isomerase deficiency

Pitfalls in the diagnosis of multiple sulfatase deficiency

A Rapid Fluorogenic Palmitoyl-Protein Thioesterase Assay: Pre- and Postnatal Diagnosis of INCL

A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variants

Determination of acid α-glucosidase protein : Evaluation as a screening marker for Pompe disease and other lysosomal storage disorders

Glycogenosis type II (acid maltase deficiency)

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