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OPA1 (Kjer Type) Dominant Optic Atrophy: A Novel Mitochondrial Disease

By Delettre C., Lenaers G., Pelloquin L., Belenguer P., Hamel C.P. in (2002)

Elsevier

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Straight-Chain Acyl-CoA Oxidase Knockout Mouse Accumulates Extremely Long Chain Fatty Acids from -Linolenic Acid: Evidence for Runaway Carousel-Type Enzyme Kinetics in Peroxisomal -Oxidation Diseases

By Infante J.P., Tschanz C.L., Shaw N., Michaud A.L., Lawrence P., Brenna J.T. in (2002)

Elsevier

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Early Neonatal Diagnosis of Long-Chain 3-Hydroxyacyl Coenzyme A Dehydrogenase and Mitochondrial Trifunctional Protein Deficiencies

By Hintz S.R., Matern D., Strauss A., Bennett M.J., Hoyme H.E., Schelley S., Kobori J., Colby C., Lehman N.L., Enns G.M. in (2002)

Elsevier

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Expression of CTNS Alleles: Subcellular Localization and Aminoglycoside Correction in Vitro

By Helip-Wooley A., Park M.A., Lemons R.M., Thoene J.G. in (2002)

Elsevier

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A Novel Intronic Mutation Results in the Use of a Cryptic Splice Acceptor Site within the Coding Region of UGT1A1, Causing Crigler-Najjar Syndrome Type 1

By Sappal B.S., Ghosh S.S., Shneider B., Kadakol A., Chowdhury J.R., Chowdhury N.R. in (2002)

Elsevier

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Denaturing Gradient Gel Electrophoresis Analysis of the Tissue Nonspecific Alkaline Phosphatase Isoenzyme Gene in Hypophosphatasia

By Mumm S., Jones J., Finnegan P., Henthorn P.S., Podgornik M.N., Whyte M.P. in (2002)

Elsevier

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Insulin Reduces Serum Glycosylphosphatidylinositol Phospholipase D Levels in Human Type I Diabetic Patients and Streptozotocin Diabetic Rats

By Schofield J.N., Stephens J.W., Hurel S.J., Bell K.M., deSouza J.B., Rademacher T.W. in (2002)

Elsevier

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Metabolism of d-[1- 13 C]Fructose, d-[2- 13 C]Fructose, and d-[6- 13 C]Fructose in Rat Hepatocytes Incubated in the Presence of H 2 O or D 2 O

By Malaisse W.J., Ladriere L., Verbruggen I., Willem R. in (2002)

Elsevier

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Site-Directed Mutations in the FAD-Binding Domain of Glycerophosphate Dehydrogenase: Catalytic Defects with Preserved Mitochondrial Anchoring of the Enzyme in Transfected COS-7 Cells

By Gudayol M., Fabregat M.E., Rasschaert J., Sener A., Malaisse W.J., Gomis R. in (2002)

Elsevier

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Detection of Sepiapterin in CSF of Patients with Sepiapterin Reductase Deficiency

By Zorzi G., Redweik U., Trippe H., Penzien J.M., Thony B., Blau N. in (2002)

Elsevier

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