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Galactose-1-phosphate in the pathophysiology of galactosemia

European journal of pediatrics, 1995-01, Vol.154 (7 Suppl 2), p.S45-S49

Gitzelmann, R

1995

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Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene

Nature genetics, 1996-01, Vol.12 (1), p.100-102

1996

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Defective neutrophil and monocyte functions in glycogen storage disease type Ib: a literature review

European Journal of Pediatrics, 1993, Vol.152 Suppl 1 (S1), p.S33-38

1993

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Hypergalactosaemia in a newborn : self-limiting intrahepatic portosystemic venous shunt

European journal of pediatrics, 1997-09, Vol.156 (9), p.719-722

1997

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Novel mutations in 13 probands with galactokinase deficiency

Human mutation, 2000-05, Vol.15 (5), p.447-453

2000

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Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen

The Journal of biological chemistry, 1988-05, Vol.263 (13), p.6226-6232

1988

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A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia

European journal of pediatrics, 1995-03, Vol.154 (3), p.215-219

1995

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Hypergalactosaemia and portosystemic encephalopathy due to persistence of ductus venosus arantii

European journal of pediatrics, 1992-08, Vol.151 (8), p.564-568

1992

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Nonketotic hyperglycinemia: clinical and electrophysiologic effects of dextromethorphan, an antagonist of the NMDA receptor

Neurology, 1993-02, Vol.43 (2), p.421-421

1993

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Complementary DNA Sequence and Chromosomal Mapping of a Human Proteoglycan-Binding Cell-Adhesion Protein (Dermatopontin)

Genomics (San Diego, Calif.), 1993-08, Vol.17 (2), p.463-467

1993

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Pearson bone marrow-pancreas syndrome with insulin-dependent diabetes, progressive renal tubulopathy, organic aciduria and elevated fetal haemoglobin caused by deletion and duplication of mitochondrial DNA

European journal of pediatrics, 1993, Vol.152 (1), p.44-50

1993

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Lysosomal enzyme activities in serum and leukocytes from patients with carbohydrate‐deficient glycoprotein syndrome type IA (phosphomannomutase deficiency)

Journal of inherited metabolic disease, 1998-04, Vol.21 (2), p.167-172

1998

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Early and severe sensory loss in three adult siblings with hexosaminidase A and B deficiency (Sandhoff disease)

Journal of neurology, neurosurgery and psychiatry, 1995-11, Vol.59 (5), p.520-523

1995

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Liver glycogen synthase deficiency : a rarely diagnosed entity

European journal of pediatrics, 1996-07, Vol.155 (7), p.561-567

1996

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Molecular analysis of aldolase B genes in hereditary fructose intolerance

The Lancet (British edition), 1990-02, Vol.335 (8685), p.306-309

1990

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Feline mucopolysaccharidosis VII due to beta-glucuronidase deficiency

Veterinary pathology, 1994-07, Vol.31 (4), p.435-443

1994

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Cysteine in the triple-helical domain of one allelic product of the alpha 1(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta

The Journal of biological chemistry, 1984-09, Vol.259 (17), p.11129-11138

1984

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Clinical, biochemical and molecular findings in a patient with X-linked liver glycogenosis followed for 40 years

European journal of pediatrics, 1998-11, Vol.157 (11), p.919-923

1998

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Clinical biochemistry: Principles and methods

Curtius, H. C

2018

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D. Enzymes of Fructose and Galactose Metabolism; Galactose-1 -Phosphate

Clinical biochemistry. Principles and methods Vol. 2, 2018, Vol.2, p.1236-1251

Originally published 1974, 2018

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H. Survey of Enzyme Assays Related to Inborn Errors of Metabolism

Clinical biochemistry. Principles and methods Vol. 2, 2018, Vol.2, p.1297-1304

Originally published 1974, 2018

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A mutation (IVS8+0.6kbdeITC) creating a new donor splice site activates a cryptic exon in an Alu-element in intron 8 of the human β-glucuronidase gene

Human genetics, 1998-12, Vol.103 (6), p.686-693

1998

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A Family of Chondrodysplasias Caused by Mutations in the Diastrophic Dysplasia Sulfate Transporter Gene and Associated with Impaired Sulfation of Proteoglycans

Annals of the New York Academy of Sciences, 1996-06, Vol.785 (1), p.195-201

1996

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Cysteine in the triple-helical domain of one allelic product of the α1(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta

The Journal of biological chemistry, 1984, Vol.259 (17), p.11129-11138

1984

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Myopathie bei der adulten form der Glykogenose II : Zwei Fallberichte und Literaturübersicht

Fortschritte der Neurologie, Psychiatrie, 1990, Vol.58 (9), p.343-350

1990

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Galactose-1-phosphate in the pathophysiology of galactosemia

Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene

Defective neutrophil and monocyte functions in glycogen storage disease type Ib: a literature review

Hypergalactosaemia in a newborn : self-limiting intrahepatic portosystemic venous shunt

Novel mutations in 13 probands with galactokinase deficiency

Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen

A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia

Hypergalactosaemia and portosystemic encephalopathy due to persistence of ductus venosus arantii

Nonketotic hyperglycinemia: clinical and electrophysiologic effects of dextromethorphan, an antagonist of the NMDA receptor

Complementary DNA Sequence and Chromosomal Mapping of a Human Proteoglycan-Binding Cell-Adhesion Protein (Dermatopontin)

Pearson bone marrow-pancreas syndrome with insulin-dependent diabetes, progressive renal tubulopathy, organic aciduria and elevated fetal haemoglobin caused by deletion and duplication of mitochondrial DNA

Lysosomal enzyme activities in serum and leukocytes from patients with carbohydrate‐deficient glycoprotein syndrome type IA (phosphomannomutase deficiency)

Early and severe sensory loss in three adult siblings with hexosaminidase A and B deficiency (Sandhoff disease)

Liver glycogen synthase deficiency : a rarely diagnosed entity

Molecular analysis of aldolase B genes in hereditary fructose intolerance

Feline mucopolysaccharidosis VII due to beta-glucuronidase deficiency

Cysteine in the triple-helical domain of one allelic product of the alpha 1(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta

Clinical, biochemical and molecular findings in a patient with X-linked liver glycogenosis followed for 40 years

Clinical biochemistry: Principles and methods

D. Enzymes of Fructose and Galactose Metabolism; Galactose-1 -Phosphate

H. Survey of Enzyme Assays Related to Inborn Errors of Metabolism

A mutation (IVS8+0.6kbdeITC) creating a new donor splice site activates a cryptic exon in an Alu-element in intron 8 of the human β-glucuronidase gene

A Family of Chondrodysplasias Caused by Mutations in the Diastrophic Dysplasia Sulfate Transporter Gene and Associated with Impaired Sulfation of Proteoglycans

Cysteine in the triple-helical domain of one allelic product of the α1(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta

Myopathie bei der adulten form der Glykogenose II : Zwei Fallberichte und Literaturübersicht

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