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Impaired Arachidonic (20:4n-6) and Docosahexaenoic (22:6n-3) Acid Synthesis by Phenylalanine Metabolites as Etiological Factors in the Neuropathology of Phenylketonuria

By Infante J.P.,Huszagh V.A. in (2001)

Academic Press

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Enzyme Replacement Therapy in Feline Mucopolysaccharidosis I

By Kakkis E.D.,Schuchman E.,He X.,Wan Q.,Kania S.,Wiemelt S.,Hasson C.W.,O'Malley T.,Weil M.A.,Aguirre G.A.,Brown D.E.,Haskins M.E. in (2001)

Academic Press

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A Sequence Variation in the Mitochondrial Glycerol-3-Phosphate Dehydrogenase Gene Is Associated with Increased Plasma Glycerol and Free Fatty Acid Concentrations among French Canadians

By St-Pierre J.,Vohl M-C.,Brisson D.,Perron P.,després J-P.,Hudson T.J.,Gaudet D. in (2001)

Academic Press

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Prenatal Diagnosis of Succinic Semialdehyde Dehydrogenase Deficiency: Increased Accuracy Employing DNA, Enzyme, and Metabolite Analyses

By Hogema B.M.,Akaboshi S.,Taylor M.,Salomons G.S.,Jakobs C.,Schutgens R.B.,Wilcken B.,Worthington S.,Maropoulos G.,Grompe M.,Gibson K.M. in (2001)

Academic Press

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Molecular Diagnosis of Wilson Disease

By Butler P.,McIntyre N.,Mistry P.K. in (2001)

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Subcutaneous Abdominal Adipocyte Size, a Predictor of Type 2 Diabetes, Is Linked to Chromosome 1q21–q23 and Is Associated with a Common Polymorphism in LMNA in Pima Indians

By Weyer C.,Wolford J.K.,Hanson R.L.,Foley J.E.,Tataranni P.A.,Bogardus C.,Pratley R.E. in (2001)

Academic Press

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Metabolic Studies of Glycosphingolipid Accumulation in Mucopolysaccharidosis IIID

By Liour S.S.,Jones M.Z.,Suzuki M.,Bieberich E.,Yu R.K. in (2001)

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Identification of a 55-bp Deletion in the Glucocerebrosidase Gene in Gaucher Disease: Phenotypic Presentation and Implications for Mutation Detection Assays

By Mao R.,O'Brien J.F.,Rao S.,Schmitt E.,Roa B.,Feldman G.L.,Spence W.C.,Snow K. in (2001)

Academic Press

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Mutation of Proline 409 to Arginine in the Meander Region of Cytochrome P450c17 Causes Severe 17α-Hydroxylase Deficiency

By Lam C-W.,Arlt W.,Chan C-K.,Honour J.W.,Lin C.J.,Tong S-F.,Choy K-W.,Miller W.L. in (2001)

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2,8-Dihydroxyadenine Urolithiasis in a Patient with Considerable Residual Adenine Phosphoribosyltransferase Activity in Cell Extracts but with Mutations in Both Copies of APRT

By deng L.,Yang M.,Fründ S.,Wessel T.,de Abreu R.A.,Tischfield J.A.,Sahota A. in (2001)

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