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Multiple Phenotypes in Phosphoglucomutase 1 Deficiency

The New England journal of medicine, 2014-02, Vol.370 (6), p.533-542

2014

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W007 Confirmation of positive neonatal screening data by biochemical and/or molecular tests

Clinica chimica acta, 2022-05, Vol.530, p.S217-S217

2022

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G.P.232

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.886-886

2014

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Distinctly Elevated Chitotriosidase Activity in a Child with Congenital Andersen Disease (Glycogen Storage Disease Type IV)

Klinische Padiatrie, 2016-09, Vol.228 (5), p.277-279

2016

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Coincidence of 2 severe chronic diseases: presymptomatic diagnosis of Wilson disease in a boy with severe haemophilia A

Klinische Padiatrie, 2013-05, Vol.225 (3), p.174-175

2013

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Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype

Neurology, 2005-01, Vol.64 (2), p.368-370

2005

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Adult polyglucosan body disease: a postmortem correlation study

Neurology, 2003-07, Vol.61 (2), p.263-265

2003

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Molecular and biochemical basis for variants and deficiency of GALT: report of 4 novel mutations

Bratislavské lékarské listy, 2004, Vol.105 (9), p.315-317

2004

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G.P.232: Double trouble: A child with spinal muscular atrophy type III and Pompe disease

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9-10), p.886-886

2014

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Newborn screening for galactosemia: ultramicro assay for galactose-1-phosphate-uridyltransferase activity

Clinica chimica acta, 1998-06, Vol.274 (1), p.71-87

1998

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Molecular and biochemical basis for variants and deficiency forms of galactose‐1‐phosphate uridyltransferase

Journal of inherited metabolic disease, 1999-05, Vol.22 (3), p.327-329

1999

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UDPgalactose epimerase in lens and fibroblasts: Activity expression in patients with cataracts and mental retardation

Journal of inherited metabolic disease, 2000-06, Vol.23 (4), p.383-386

2000

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Molecular aspects of glycogen storage disease type Ia in Turkish patients: A novel mutation in the glucose‐6‐phosphatase gene

Journal of inherited metabolic disease, 1998-06, Vol.21 (4), p.445-446

1998

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Molecular characterization of Duarte‐1 and Duarte‐2 variants of galactose‐1‐phosphate uridyltransferase

Journal of inherited metabolic disease, 1996-01, Vol.19 (5), p.638-644

1996

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Duarte‐1 (Los Angeles) and Duarte‐2 (Duarte) variants in Germany: Two new mutations in the GALT gene which cause a GALT activity decrease by 40–50% of normal in red cells

Journal of inherited metabolic disease, 1998-06, Vol.21 (3), p.232-235

1998

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Characterization of two stop codon mutations in the galactose-1-phosphate uridyltransferase gene of three male galactosemic patients with severe clinical manifestation

Human genetics, 1995-12, Vol.96 (6), p.721-725

1995

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Delayed or late-onset type II glycogenosis with globular inclusions

Acta neuropathologica, 2005-08, Vol.110 (2), p.151-157

2005

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Mutations in the galactose‐1‐phosphate uridyltransferase gene of two families with mild galactosaemia variants

Journal of inherited metabolic disease, 1995-09, Vol.18 (5), p.567-576

1995

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Studies of DNA in galactose‐1‐phosphate uridyltransferase deficiency and the Duarte variant in Germany

Journal of inherited metabolic disease, 1994-01, Vol.17 (1), p.149-150

1994

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Infantile muscle phosphorylase-b-kinase deficiency. A case report

Neuropediatrics, 1998-02, Vol.29 (1), p.48-50

1998

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Fatal arthrogryposis with respiratory insufficiency: A possible case of muscle phosphorylase b‐kinase deficiency

Journal of inherited metabolic disease, 1994-01, Vol.17 (1), p.153-155

1994

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Purification ofα andβ subunits of phosphorylase‐b‐kinase in human liver and cardiac muscle by affinity chromatography and immunodetection

Journal of inherited metabolic disease, 1991-05, Vol.14 (3), p.308-310

1991

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Morbus Fabry bei persistierender Proteinurie nach granulomatöser Lymphadenitis

Klinische Pädiatrie, 2011, Vol.223 (S 01)

2011

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Mutation analysis in glycogen storage disease type 1 non-a

Human genetics, 2000-09, Vol.107 (3), p.285-289

2000

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A new mutation of the glucose-6-phosphatase gene in a 4-year-old girl with oligosymptomatic glycogen storage disease type 1a

The Journal of pediatrics, 1998-02, Vol.132 (2), p.360-361

1998

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Multiple Phenotypes in Phosphoglucomutase 1 Deficiency

W007 Confirmation of positive neonatal screening data by biochemical and/or molecular tests

G.P.232

Distinctly Elevated Chitotriosidase Activity in a Child with Congenital Andersen Disease (Glycogen Storage Disease Type IV)

Coincidence of 2 severe chronic diseases: presymptomatic diagnosis of Wilson disease in a boy with severe haemophilia A

Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype

Adult polyglucosan body disease: a postmortem correlation study

Molecular and biochemical basis for variants and deficiency of GALT: report of 4 novel mutations

G.P.232: Double trouble: A child with spinal muscular atrophy type III and Pompe disease

Newborn screening for galactosemia: ultramicro assay for galactose-1-phosphate-uridyltransferase activity

Molecular and biochemical basis for variants and deficiency forms of galactose‐1‐phosphate uridyltransferase

UDPgalactose epimerase in lens and fibroblasts: Activity expression in patients with cataracts and mental retardation

Molecular aspects of glycogen storage disease type Ia in Turkish patients: A novel mutation in the glucose‐6‐phosphatase gene

Molecular characterization of Duarte‐1 and Duarte‐2 variants of galactose‐1‐phosphate uridyltransferase

Duarte‐1 (Los Angeles) and Duarte‐2 (Duarte) variants in Germany: Two new mutations in the GALT gene which cause a GALT activity decrease by 40–50% of normal in red cells

Characterization of two stop codon mutations in the galactose-1-phosphate uridyltransferase gene of three male galactosemic patients with severe clinical manifestation

Delayed or late-onset type II glycogenosis with globular inclusions

Mutations in the galactose‐1‐phosphate uridyltransferase gene of two families with mild galactosaemia variants

Studies of DNA in galactose‐1‐phosphate uridyltransferase deficiency and the Duarte variant in Germany

Infantile muscle phosphorylase-b-kinase deficiency. A case report

Fatal arthrogryposis with respiratory insufficiency: A possible case of muscle phosphorylase b‐kinase deficiency

Purification ofα andβ subunits of phosphorylase‐b‐kinase in human liver and cardiac muscle by affinity chromatography and immunodetection

Morbus Fabry bei persistierender Proteinurie nach granulomatöser Lymphadenitis

Mutation analysis in glycogen storage disease type 1 non-a

A new mutation of the glucose-6-phosphatase gene in a 4-year-old girl with oligosymptomatic glycogen storage disease type 1a

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