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The aetiology of neurological complications of organic acidaemias—A role for the blood–brain barrier

By Kölker S.,Sauer S.,Surtees R.,Leonard J. in (2006)

Springer Publishing Company

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Commentary on: The aetiology of neurological complications of organic acidaemias—a role for the blood–brain barrier. Kölker S, Sauer SW, Surtees RAH, Leonard JV

By Morris A. in (2006)

Springer Publishing Company

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Glucosylceramide transfer from lysosomes—the missing link in molecular pathology of glucosylceramidase deficiency: A hypothesis based on existing data

By Elleder M. in (2006)

Springer Publishing Company

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Variant maple syrup urine disease (MSUD)—The entire spectrum

By Simon E.,Flaschker N.,Schadewaldt P.,Langenbeck U.,Wendel U. in (2006)

Springer Publishing Company

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Pharmacokinetics of orally administered tetrahydrobiopterin in patients with phenylalanine hydroxylase deficiency

By Zurflüh M.,Fiori L.,Fiege B.,Ozen I.,Demirkol M.,Gärtner K.,Thöny B.,Giovannini M.,Blau N. in (2006)

Springer Publishing Company

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Large neutral amino acids in the treatment of phenylketonuria (PKU)

By Matalon R.,Michals-Matalon K.,Bhatia G.,Grechanina E.,Novikov P.,McDonald J.,Grady J.,Tyring S.,Guttler F. in (2006)

Springer Publishing Company

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Mutational spectrum of classical galactosaemia in Spain and Portugal

By Gort L.,Boleda M.,Tyfield L.,Vilarinho L.,Rivera I.,Cardoso M.,Santos-Leite M.,Girós M.,Briones P. in (2006)

Springer Publishing Company

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Molecular characterization of Portuguese patients with mucopolysaccharidosis type II shows evidence that the IDS gene is prone to splicing mutations

By Alves S.,Mangas M.,Prata M.,Ribeiro G.,Lopes L.,Ribeiro H.,Pinto-Basto J.,Lima M.,Lacerda L. in (2006)

Springer Publishing Company

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Effect of Hunter disease (mucopolysaccharidosis type II) mutations on molecular phenotypes of iduronate-2-sulfatase: Enzymatic activity, protein processing and structural analysis

By Sukegawa-Hayasaka K.,Kato Z.,Nakamura H.,Tomatsu S.,Fukao T.,Kuwata K.,Orii T.,Kondo N. in (2006)

Springer Publishing Company

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Outcome after three years of laronidase enzyme replacement therapy in a patient with Hurler syndrome

By Thomas J.,Jacobs S.,Kierstein J.,Hove J. in (2006)

Springer Publishing Company

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