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3-Methylglutaconic aciduria—lessons from 50 genes and 977 patients

By Wortmann Saskia,Kluijtmans Leo,Rodenburg Richard,Sass Jörn,Nouws Jessica,Kaauwen Edwin,Kleefstra Tjitske,Tranebjaerg Lisbeth,Vries Maaike,Isohanni Pirjo,Walter Katharina,Alkuraya Fowzan,Smuts Izelle,Reinecke Carolus,Westhuizen Francois,Thorburn David,Smeitink Jan,Morava Eva,Wevers Ron in (2013)

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Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature

By Wortmann Saskia,Duran Marinus,Anikster Yair,Barth Peter,Sperl Wolfgang,Zschocke Johannes,Morava Eva,Wevers Ron in (2013)

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Left ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndrome

By Karkucinska-Wieckowska Agnieszka,Trubicka Joanna,Werner Bozena,Kokoszynska Katarzyna,Pajdowska Magdalena,Pronicki Maciej,Czarnowska Elzbieta,Lebiedzinska Magdalena,Sykut-Cegielska Jolanta,Ziolkowska Lidia,Jaron Weronika,Dobrzanska Anna,Ciara Elzbieta,Wieckowski Mariusz,Pronicka Ewa in (2013)

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Treatment of acute decompensation of maple syrup urine disease in adult patients with a new parenteral amino-acid mixture

By Servais A.,Arnoux J.,Lamy C.,Hummel A.,Vittoz N.,Katerinis I.,Bazzaoui V.,Dubois S.,Broissand C.,Husson M.,Berleur M.,Rabier D.,Ottolenghi C.,Valayannopoulos V.,Lonlay P. in (2013)

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Structural white matter changes in adolescents and young adults with maple syrup urine disease

By Klee D.,Thimm E.,Wittsack H.,Schubert D.,Primke R.,Pentang G.,Schaper J.,Mödder U.,Antoch A.,Wendel U.,Cohnen M. in (2013)

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In vitro read-through of phenylalanine hydroxylase (PAH) nonsense mutations using aminoglycosides: a potential therapy for phenylketonuria

By Ho Gladys,Reichardt Juergen,Christodoulou John in (2013)

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Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria

By Veiga-da-Cunha Maria,Verhoeven-Duif Nanda,Koning Tom,Duran Marinus,Dorland Bert,Schaftingen Emile in (2013)

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S-adenosylmethionine and S-adenosylhomocysteine in plasma and cerebrospinal fluid in Rett syndrome and the effect of folinic acid supplementation

By Hagebeuk Eveline,Duran Marinus,Abeling Nico,Vyth Arno,Poll-The Bwee in (2013)

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Carnitine supplementation attenuates myocardial lipid accumulation in long-chain acyl-CoA dehydrogenase knockout mice

By Bakermans Adrianus,Weeghel Michel,Denis Simone,Nicolay Klaas,Prompers Jeanine,Houten Sander in (2013)

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A structural mapping of mutations causing succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency

By Shafqat Naeem,Kavanagh Kate,Sass Jörn,Christensen Ernst,Fukao Toshiyuki,Lee Wen,Oppermann Udo,Yue Wyatt in (2013)

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