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Phenylalanine tolerance in three phenylketonuric women pregnant with fetuses of different genetic PKU status

By Kohlschütter B.,Ellerbrok M.,Merkel M.,Tchirikov M.,Zschocke J.,Santer R.,Ullrich K. in (2009)

Springer Publishing Company

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Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-up

By Kusmierska K.,Jansen E.,Jakobs C.,Szymanska K.,Malunowicz E.,Meilei D.,Thony B.,Blau N.,Tryfon J.,Rokicki D.,Pronicka E.,Sykut-Cegielska J. in (2009)

Springer Publishing Company

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Combined hyperlipidaemia as a presenting sign of cholesteryl ester storage disease

By Decarlis S.,Agostoni C.,Ferrante F.,Scarlino S.,Riva E.,Giovannini M. in (2009)

Springer Publishing Company

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Plasma carnitine ester profile in homozygous and heterozygous OCTN2 deficiency

By Komlósi K.,Magyari L.,Talián G.,Nemes É.,Káposzta R.,Mogyorósy G.,Méhes K.,Melegh B. in (2009)

Springer Publishing Company

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Peripheral neuropathy in a patient with d-2-hydroxyglutaric aciduria

By Haliloglu G.,Temucin C.,Oguz K.,Celiker A.,Coskun T.,Sass J.,Fischer J.,Topcu M. in (2009)

Springer Publishing Company

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Adiponectin levels correlate with the severity of hypertriglyceridaemia in glycogen storage disease Ia

By Bandsma R.,Smit G.,Reijngoud D.-J.,Kuipers F. in (2009)

Springer Publishing Company

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Prenatal diagnosis of a novel mutation, c.529C>T (p.Q177X), in the BCKDHA gene in a family with maple syrup urine disease

By Tammachote R.,Tongkobpetch S.,Desudchit T.,Suphapeetiporn K.,Shotelersuk V. in (2009)

Springer Publishing Company

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Extracorporeal membrane oxygenation in a patient with propionic acidaemia: a therapeutic option for cardiac failure

By Mizuguchi K.,Hoshino H.,Nagasawa T.,Kubota M. in (2009)

Springer Publishing Company

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Congenital disorder of glycosylation type Ia in a Malaysian family: Clinical outcome and description of a novel PMM2 mutation

By Thong M.,Fietz M.,Nicholls C.,Lee M.,Asma O. in (2009)

Springer Publishing Company

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Fabry disease in a patient with Turner syndrome

By Brouns R.,Eyskens F.,Boeck K.,Ceuterick-de Groote C.,Broeck M.,Broeckhoven C.,Deyn P. in (2009)

Springer Publishing Company

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