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Therapeutic concepts in succinate semialdehyde dehydrogenase (SSADH; ALDH5a1) deficiency (γ-hydroxybutyric aciduria). Hypotheses evolved from 25 years of patient evaluation, studies in Aldh5a1 ^−/− mice and characterization of γ-hydroxybutyric acid pharmacology

By Knerr I.,Pearl P.,Bottiglieri T.,Carter Snead O.,Jakobs C.,Gibson K. in (2007)

Springer Publishing Company

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Uric acid changes in urine and plasma: An effective tool in screening for purine inborn errors of metabolism and other pathological conditions

By Simoni R.,Ferreira Gomes L.,Scalco F.,Oliveira C.,Aquino Neto F.,Costa de Oliveira M. in (2007)

Springer Publishing Company

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Deprivation of pantothenic acid elicits a movement disorder and azoospermia in a mouse model of pantothenate kinase-associated neurodegeneration

By Kuo Y.,Hayflick S.,Gitschier J. in (2007)

Springer Publishing Company

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Regionally selective decreases in cerebral glucose metabolism in a mouse model of phenylketonuria

By Qin M.,Beebe Smith C. in (2007)

Springer Publishing Company

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Dietary long-chain polyunsaturated fatty acid supplementation in infants with phenylketonuria: a randomized controlled trial

By Koletzko B.,Sauerwald T.,Demmelmair H.,Herzog M.,Schenck U.,Böhles H.,Wendel U.,Seidel J. in (2007)

Springer Publishing Company

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Mitochondrial disease: Needs and problems of children, their parents and family. A systematic review and pilot study into the need for information of parents during the diagnostic phase

By Noorda G.,Hermans-Peters M.,Smeitink J.,Achterberg T.,Kemps H.,Goverde W.,Schoonhoven L. in (2007)

Springer Publishing Company

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Carnitine transporter and holocarboxylase synthetase deficiencies in The Faroe Islands

By Lund A.,Joensen F.,Hougaard D.,Jensen L.,Christensen E.,Christensen M.,Nørgaard-Petersen B.,Schwartz M.,Skovby F. in (2007)

Springer Publishing Company

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A novel starch for the treatment of glycogen storage diseases

By Bhattacharya K.,Orton R.,Qi X.,Mundy H.,Morley D.,Champion M.,Eaton S.,Tester R.,Lee P. in (2007)

Springer Publishing Company

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Bovine mucopolysaccharidosis type IIIB

By Karageorgos L.,Hill B.,Bawden M.,Hopwood J. in (2007)

Springer Publishing Company

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High incidence of autoantibodies in Fabry disease patients

By Martinez P.,Aggio M.,Rozenfeld P. in (2007)

Springer Publishing Company

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