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Identification and Characterization of Three Novel Missense Mutations in Mevalonate Kinase cDNA Causing Mevalonic Aciduria, a Disorder of Isoprene Biosynthesis

Human molecular genetics, 1999-08, Vol.8 (8), p.1523-1528

1999

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Inborn errors of metabolism as a cause of neurological disease in adults: an approach to investigation

Journal of Neurology, Neurosurgery and Psychiatry, 2000-07, Vol.69 (1), p.5-12

2000

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Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency

Journal of inherited metabolic disease, 2000-07, Vol.23 (5), p.497-504

2000

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Mild ichthyosis in a 4‐year‐old boy with multiple sulphatase deficiency

British journal of dermatology (1951), 2002-08, Vol.147 (2), p.353-355

2002

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Practical difficulties in the diagnosis of transient non‐ketotic hyperglycinaemia

Developmental medicine and child neurology, 2008-02, Vol.50 (2), p.157-159

2008

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Prenatal diagnosis of succinate semialdehyde dehydrogenase deficiency in non‐identical twins

Journal of inherited metabolic disease, 2002-11, Vol.25 (6), p.517-518

2002

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The Leber hereditary optic neuropathy 14484 mutation and X‐linked adrenoleukodystrophy: A possible modifier of phenotypic expression?

Journal of inherited metabolic disease, 1999-08, Vol.22 (6), p.760-761

1999

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Mutation screening for tyrosinaemia type I

Journal of inherited metabolic disease, 2002-11, Vol.25 (6), p.523-524

2002

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The frequency of mtDNA 8994 polymorphism and detection of the NARP 8993 mutation

Journal of medical genetics, 2002-03, Vol.39 (3), p.204-205

2002

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A misdiagnosis of X-linked adrenoleucodystrophy in cultured chorionic villus cells by the measurement of very long chain fatty acids

Prenatal diagnosis, 1995-05, Vol.15 (5), p.486-490

1995

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Prenatal diagnosis for Canavan disease: the use of DNA markers

Journal of inherited metabolic disease, 1995-03, Vol.18 (2), p.215-217

1995

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Prenatal exclusion of the hhh syndrome

Prenatal diagnosis, 1995-05, Vol.15 (5), p.474-476

1995

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Tyrosinaemia type 1 and glutathione synthetase deficiency: two disorders with reduced hepatic thiol group concentrations and a liver 4‐fumarylacetoacetate hydrolase deficiency

Journal of inherited metabolic disease, 1995-01, Vol.18 (1), p.48-55

1995

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The Cryopreservation of Skin Biopsies—A Technique for Reducing Workload in a Cell Culture Laboratory

Annals of clinical biochemistry, 1995-03, Vol.32 (2), p.190-192

1995

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Rhizomelic chondrodysplasia punctata — A new clinical variant

Journal of inherited metabolic disease, 1992-11, Vol.15 (6), p.931-932

1992

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Mitochondrial DNA Depletion Syndrome is Expressed in Amniotic Fluid Cell Cultures

The American journal of pathology, 1999-07, Vol.155 (1), p.67-70

1999

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Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene

Human genetics, 1998-04, Vol.102 (4), p.423-429

1998

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Riboflavin‐responsive ethylmalonic—adipic aciduria

Journal of inherited metabolic disease, 1985-06, Vol.8 (2), p.67-70

1985

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Antenatal diagnosis of rhizomelic chondrodysplasia punctata in the second trimester

Journal of inherited metabolic disease, 1990-05, Vol.13 (3), p.380-382

1990

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A case of the B1 variant of GM2‐gangliosidosis

Journal of inherited metabolic disease, 1990-05, Vol.13 (3), p.280-282

1990

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Prenatal diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency

Prenatal diagnosis, 1987-02, Vol.7 (2), p.135-141

1987

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Biochemical investigations on a patient with a defect in cytosolic acetoacetyl‐CoA thiolase, associated with mental retardation

Journal of inherited metabolic disease, 1984-09, Vol.7 (3), p.125-128

1984

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Atypical radiological features of β-glucuronidase deficiency (mucopolysaccharidosis VII) occurring in an elderly patient from an inbred kindred

British journal of radiology, 1989-05, Vol.62 (737), p.491-494

1989

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The diagnosis and biochemical investigation of a patient with a short chain fatty acid oxidation defect

Journal of inherited metabolic disease, 1985-06, Vol.8 (S2), p.135-136

1985

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The prenatal diagnosis of glutaric aciduria type II, using quantitative GC‐MS

Journal of inherited metabolic disease, 1985-06, Vol.8 (S2), p.145-146

1985

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Identification and Characterization of Three Novel Missense Mutations in Mevalonate Kinase cDNA Causing Mevalonic Aciduria, a Disorder of Isoprene Biosynthesis

Inborn errors of metabolism as a cause of neurological disease in adults: an approach to investigation

Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency

Mild ichthyosis in a 4‐year‐old boy with multiple sulphatase deficiency

Practical difficulties in the diagnosis of transient non‐ketotic hyperglycinaemia

Prenatal diagnosis of succinate semialdehyde dehydrogenase deficiency in non‐identical twins

The Leber hereditary optic neuropathy 14484 mutation and X‐linked adrenoleukodystrophy: A possible modifier of phenotypic expression?

Mutation screening for tyrosinaemia type I

The frequency of mtDNA 8994 polymorphism and detection of the NARP 8993 mutation

A misdiagnosis of X-linked adrenoleucodystrophy in cultured chorionic villus cells by the measurement of very long chain fatty acids

Prenatal diagnosis for Canavan disease: the use of DNA markers

Prenatal exclusion of the hhh syndrome

Tyrosinaemia type 1 and glutathione synthetase deficiency: two disorders with reduced hepatic thiol group concentrations and a liver 4‐fumarylacetoacetate hydrolase deficiency

The Cryopreservation of Skin Biopsies—A Technique for Reducing Workload in a Cell Culture Laboratory

Rhizomelic chondrodysplasia punctata — A new clinical variant

Mitochondrial DNA Depletion Syndrome is Expressed in Amniotic Fluid Cell Cultures

Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene

Riboflavin‐responsive ethylmalonic—adipic aciduria

Antenatal diagnosis of rhizomelic chondrodysplasia punctata in the second trimester

A case of the B1 variant of GM2‐gangliosidosis

Prenatal diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency

Biochemical investigations on a patient with a defect in cytosolic acetoacetyl‐CoA thiolase, associated with mental retardation

Atypical radiological features of β-glucuronidase deficiency (mucopolysaccharidosis VII) occurring in an elderly patient from an inbred kindred

The diagnosis and biochemical investigation of a patient with a short chain fatty acid oxidation defect

The prenatal diagnosis of glutaric aciduria type II, using quantitative GC‐MS

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