![](/images/ico/ico_close.png)
![](/images/ico/ico3.png)
Period of time: 2013年6期
Publisher: Springer Publishing Company
Founded in: 1978
Total resources: 41
ISSN: 0141-8955
Subject: R72 Pediatrics
Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.
Journal of Inherited Metabolic Disease,volume 36,issue 6
Menu
![](/images/ico/ico5.png)
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)
Journal of Inherited Metabolic Disease,volume 36,issue 6 , Vol. 36, Iss. 6, 2013-11 , pp.![](/images/ico/ico5.png)
By Wortmann Saskia,Duran Marinus,Anikster Yair,Barth Peter,Sperl Wolfgang,Zschocke Johannes,Morava Eva,Wevers Ron in (2013)
Journal of Inherited Metabolic Disease,volume 36,issue 6 , Vol. 36, Iss. 6, 2013-11 , pp.![](/images/ico/ico5.png)
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)
Journal of Inherited Metabolic Disease,volume 36,issue 6 , Vol. 36, Iss. 6, 2013-11 , pp.![](/images/ico/ico5.png)
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)
Journal of Inherited Metabolic Disease,volume 36,issue 6 , Vol. 36, Iss. 6, 2013-11 , pp.![](/images/ico/ico5.png)
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)
Journal of Inherited Metabolic Disease,volume 36,issue 6 , Vol. 36, Iss. 6, 2013-11 , pp.![](/images/ico/ico5.png)
By Ho Gladys,Reichardt Juergen,Christodoulou John in (2013)
Journal of Inherited Metabolic Disease,volume 36,issue 6 , Vol. 36, Iss. 6, 2013-11 , pp.![](/images/ico/ico5.png)
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)
Journal of Inherited Metabolic Disease,volume 36,issue 6 , Vol. 36, Iss. 6, 2013-11 , pp.![](/images/ico/ico5.png)
By Hagebeuk Eveline,Duran Marinus,Abeling Nico,Vyth Arno,Poll-The Bwee in (2013)
Journal of Inherited Metabolic Disease,volume 36,issue 6 , Vol. 36, Iss. 6, 2013-11 , pp.![](/images/ico/ico5.png)
By Bakermans Adrianus,Weeghel Michel,Denis Simone,Nicolay Klaas,Prompers Jeanine,Houten Sander in (2013)
Journal of Inherited Metabolic Disease,volume 36,issue 6 , Vol. 36, Iss. 6, 2013-11 , pp.![](/images/ico/ico5.png)
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)
Journal of Inherited Metabolic Disease,volume 36,issue 6 , Vol. 36, Iss. 6, 2013-11 , pp.