Reactome | Valle, D

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Valle, D Show undefined attributes

dbId	70630
displayName	Valle, D
firstname	David
initial	D
modified	[InstanceEdit:6783922] D'Eustachio, Peter, 2015-06-17
publications	[Book:8984351] 0079130356 The Metabolic and Molecular Bases of Inherited Diseases Valle, David [Book:3446763] The Online Metabolic and Molecular Bases of Inherited Disease 0079130356 Valle, D Chapter 155: Inherited Disorders of Folate and Cobalamin Transport and Metabolism [LiteratureReference:389804] Genetic evidence for a common enzyme catalyzing the second step in the degradation of proline and hydroxyproline [Book:2226062] 0079130356 Scriver, CR The Mucopolysaccharidoses The Metabolic and Molecular Bases of Inherited Disease, 8th ed [Book:2252627] Beta-galactosidase deficiency (beta-galactosidosis): GM1 gangliosidosis and Morquio B disease 0079130356 Scriver, CR The Metabolic and Molecular Bases of Inherited Disease, 8th ed [Book:174617] The Metabolic and Molecular Bases of Inherited Disease, 8th ed Scriver, CR Introduction: Structure and metabolism of plasma lipoproteins 0079130356 [Book:70661] Disorders of proline and hydroxyproline metabolism 0079130356 Scriver, Charles R The Metabolic and Molecular Bases of Inherited Disease, 8th ed [Book:70939] The Metabolic and Molecular Bases of Inherited Disease, 8th ed Scriver, CR Errors of lysine metabolism 0079130356 [Book:71041] The Metabolic and Molecular Bases of Inherited Disease, 8th ed Scriver, CR Organic acidemias due to defects in lysine oxidation: 2-ketoadipic acidemia and glutaric acidemia 0079130356 [Book:71156] The Metabolic and Molecular Bases of Inherited Disease, 8th ed Scriver, CR Hypertyrosinemia 0079130356 [Book:76580] The Metabolic and Molecular Bases of Inherited Disease, 8th ed Scriver, CR Myoadenylate deaminase deficiency 0079130356 [LiteratureReference:517457] Cloning, characterization, and expression of cDNAs encoding human delta 1-pyrroline-5-carboxylate dehydrogenase [Book:70549] Urea cycle enzymes 0079130356 Scriver, CR The Metabolic and Molecular Bases of Inherited Disease, 8th ed [Book:70631] The hyperornithinemias 0079130356 Scriver, Charles R The Metabolic and Molecular Bases of Inherited Disease, 8th ed [Book:70786] The Metabolic and Molecular Bases of Inherited Disease, 8th ed Scriver, CR Branched chain organic acidurias 0079130356 [Book:70027] The Metabolic and Molecular Bases of Inherited Disease, 8th ed Scriver, CR Maple syrup urine disease (branched-chain ketoaciduria) 0079130356 [Book:71000] The Metabolic and Molecular Bases of Inherited Disease, 8th ed Scriver, CR Disorders of propionate and methylmalonate metabolism 0079130356 [Book:77402] The Metabolic and Molecular Bases of Inherited Disease, 8th ed Scriver, CR Mitochondrial fatty acid oxidation disorders 0079130356 [Book:71113] The Metabolic and Molecular Bases of Inherited Disease, 8th ed Scriver, CR Disorders of tetrahydrobiopterin and related biogenic amines 0079130356 [LiteratureReference:5621715] DNA methylation regulates MicroRNA expression [Book:70364] 0071163360 Scriver, Charles R Galactosemia The Metabolic & Molecular Bases of Inherited Disease [LiteratureReference:508038] Molecular enzymology of mammalian Delta1-pyrroline-5-carboxylate synthase. Alternative splice donor utilization generates isoforms with different sensitivity to ornithine inhibition [LiteratureReference:9908587] 3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening [LiteratureReference:9036548] Alternative splicing suggests extended function of PEX26 in peroxisome biogenesis [LiteratureReference:70681] Mutations in the Delta1-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia. [LiteratureReference:70761] The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency [LiteratureReference:517459] Functional consequences of PRODH missense mutations [LiteratureReference:70640] Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences. [LiteratureReference:9908603] Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy [LiteratureReference:70619] Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter [LiteratureReference:195694] Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hunermann syndrome [LiteratureReference:9698138] The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities
schemaClass	Person
surname	Valle

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