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By in (1998)

Springer Publishing Company

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Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene

By Dionisi-Vici C.,Seneca S.,Zeviani M.,Fariello G.,Rimoldi M.,Bertini E.,de Meirleir L. in (1998)

Springer Publishing Company

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Pyruvate dehydrogenase complex deficiency and absence of subunit X

By de Meirleir L.,Lissens W.,Benelli C.,Marsac C.,de Klerk J.,Scholte J.,van Diggelen O.,Kleijer W.,Seneca S.,Liebaers I. in (1998)

Springer Publishing Company

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The association of protein-losing enteropathy with cobalamin C defect

By Ellaway C.,Christodoulou J.,Kamath R.,Carpenter K.,Wilcken B. in (1998)

Springer Publishing Company

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Amino acid and nucleotide sequences of human peroxisomal enoyl-CoA hydratase : 3-hydroxyacyl-CoA dehydrogenase cDNA

By Fukuda S.,Suzuki Y.,Shimozawa N.,Zhang Z.,Orii T.,Aoyama T.,Hashimoto T.,Kondo N. in (1998)

Springer Publishing Company

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Neuropsychological outcome of experimental manipulation of phenylalanine intake in treated phenylketonuria

By Griffiths P.,Ward N.,Harvie A.,Cockburn F. in (1998)

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Robert Guthrie - the PKU Story. Crusade Against Mental Retardation. Jean Holt Koch.

By Kennedy B. in (1998)

Springer Publishing Company

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Neonatal neurological assessment of offspring in maternal phenylketonuria

By Waisbren S.E.,Chang P.,Levy H.L.,Shifrin H.,Allred E.,Azen C.,de la Cruz F.,Hanley W.,Koch R.,Matalon R.,Rouse B. in (1998)

Springer Publishing Company

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Oligosaccharide excretion in adult Gaucher disease

By de Jong J.G.N.,Aerts J.M.F.G.,van Weely S.,Hollak C.E.M.,van Pelt J.,van Woerkom L.M.J.,Liebrand-van Sambeek M.L.F.,Wevers R.A. in (1998)

Springer Publishing Company

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Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease)

By Isogai K.,Sukegawa K.,Tomatsu S.,Fukao T.,Song X-Q.,Yamada Y.,Fukuda S.,Orii T.,Kondo N. in (1998)

Springer Publishing Company

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