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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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Hypertrichosis in presymptomatic mitochondrial disease

By Baertling Fabian,Mayatepek Ertan,Distelmaier Felix in (2013)

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Evoked potentails and neurocognitive functions in pediatric Egyptian Gaucher patients on enzyme replacement therapy: a single center experience

By Tantawy Azza,Sherif Eman,Adly Amira,Hassanine Sahar,Awad Amina in (2013)

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Disappearance of congenital noncompaction in hereditary cobalamin-C-deficiency 2.5 years after birth

By Finsterer Josef,Stöllberger Claudia in (2013)

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Farber lipogranulomatosis with predominant joint involvement mimicking juvenile idiopathic arthritis

By Kostik Mikhail,Chikova Irina,Avramenko Vladislav,Vasyakina Laly,Trionnaire Emmanuelle,Chasnyk Vyacheslav,Levade Thierry in (2013)

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Retinal characteristics of the congenital disorder of glycosylation PMM2-CDG

By Thompson Dorothy,Lyons Ruth,Russell-Eggitt Isabelle,Liasis Alki,Jägle Herbert,Grünewald Stephanie 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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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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Noncompaction of the ventricular myocardium and hydrops fetalis in cobalamin C disease: Response to letter “Disappearance of congenital noncompaction in hereditary cobalamin-C-deficiency 2.5 years after birth” by J. Finsterer and Claudia Stöllberger, DOI 10.1007/s10545-013-9612-4

By Tanpaiboon Pranoot,Venditti Charles 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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