Journal of Inherited Metabolic Disease,volume 30,issue 2  (04-2013)

Period of time： 2013年2期

Publisher： Springer Publishing Company

Founded in： 1978

Total resources： 41

ISSN： 0141-8955

Subject： R72 Pediatrics

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Journal of Inherited Metabolic Disease,volume 30,issue 2

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Recent advances in newborn screening

By Wilcken B. in (2007)

Journal of Inherited Metabolic Disease,volume 30,issue 2 , Vol. 30, Iss. 2, 2007-04 , pp. 129-133

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Recent advances in amino acid and organic acid metabolism

By Leonard J. in (2007)

Journal of Inherited Metabolic Disease,volume 30,issue 2 , Vol. 30, Iss. 2, 2007-04 , pp. 134-138

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Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)

By Ohura T.,Kobayashi K.,Tazawa Y.,Abukawa D.,Sakamoto O.,Tsuchiya S.,Saheki T. in (2007)

Journal of Inherited Metabolic Disease,volume 30,issue 2 , Vol. 30, Iss. 2, 2007-04 , pp. 139-144

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Phenylketonuria: Dietary and therapeutic challenges

By Giovannini M.,Verduci E.,Salvatici E.,Fiori L.,Riva E. in (2007)

Journal of Inherited Metabolic Disease,volume 30,issue 2 , Vol. 30, Iss. 2, 2007-04 , pp. 145-152

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Double blind placebo control trial of large neutral amino acids in treatment of PKU: Effect on blood phenylalanine

By Matalon R.,Michals-Matalon K.,Bhatia G.,Burlina A.,Burlina A.,Braga C.,Fiori L.,Giovannini M.,Grechanina E.,Novikov P.,Grady J.,Tyring S.,Guttler F. in (2007)

Journal of Inherited Metabolic Disease,volume 30,issue 2 , Vol. 30, Iss. 2, 2007-04 , pp. 153-158

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Glycogen storage disease types I and II: Treatment updates

By Koeberl D.,Kishnani P.,Chen Y. in (2007)

Journal of Inherited Metabolic Disease,volume 30,issue 2 , Vol. 30, Iss. 2, 2007-04 , pp. 159-164

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International Morquio A Registry: Clinical manifestation and natural course of Morquio A disease

By Montaño A.,Tomatsu S.,Gottesman G.,Smith M.,Orii T. in (2007)

Journal of Inherited Metabolic Disease,volume 30,issue 2 , Vol. 30, Iss. 2, 2007-04 , pp. 165-174

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Enzyme, cell and gene-based therapies for metachromatic leukodystrophy

By Sevin C.,Aubourg P.,Cartier N. in (2007)

Journal of Inherited Metabolic Disease,volume 30,issue 2 , Vol. 30, Iss. 2, 2007-04 , pp. 175-183

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Fabry disease: Baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry

By Eng C.,Fletcher J.,Wilcox W.,Waldek S.,Scott C.,Sillence D.,Breunig F.,Charrow J.,Germain D.,Nicholls K.,Banikazemi M. in (2007)

Journal of Inherited Metabolic Disease,volume 30,issue 2 , Vol. 30, Iss. 2, 2007-04 , pp. 184-192

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Molecular and clinical aspects of peroxisomal diseases

By Shimozawa N. in (2007)

Journal of Inherited Metabolic Disease,volume 30,issue 2 , Vol. 30, Iss. 2, 2007-04 , pp. 193-197

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