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Journal of Inherited Metabolic Disease
Metadata
Title
Microphotometric analysis of NADH-tetrazolium reductase deficiency in fibroblasts of patients with Leber hereditary optic neuropathy
Authors
S. Malik
H. Sudoyo
S. Marzuki
Publication date
01-11-2000
Publisher
Kluwer Academic Publishers
Published in
Journal of Inherited Metabolic Disease / Issue 7/2000
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI
https://doi.org/10.1023/A:1005687031531

Other articles of this Issue 7/2000

Journal of Inherited Metabolic Disease 7/2000 Go to the issue

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Mutation detection in 65 families with a possible diagnosis of ornithine carbamoyltransferase deficiency including 14 novel mutations

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High plasma leucine concentrations without neurological symptoms in a patient with classical maple syrup urine disease

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Differentiation of hair growth cycle from scalp hair roots for the diagnosis of glucose-6-phosphate dehydrogenase deficiency in neonates

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Influence of dose and age on the response of the allopurinol test for ornithine carbamoyltransferase deficiency in control infants

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Studies of the V94M-substituted human UDPgalactose-4-epimerase enzyme associated with generalized epimerase-deficiency galactosaemia

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Hyperketonaemia in glycerol kinase deficiency

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