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Publisher: Springer Publishing Company
Founded in: 1978
Total resources: 41
E-ISSN: 1573-2665
ISSN: 0141-8955
Subject: R5 Internal Medicine
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
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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 , Vol. 36, Iss. 6, 2013-11 , pp.![](/images/ico/ico5.png)
Hypertrichosis in presymptomatic mitochondrial disease
By Baertling Fabian,Mayatepek Ertan,Distelmaier Felix in (2013)
Journal of Inherited Metabolic Disease , Vol. 36, Iss. 6, 2013-11 , pp.![](/images/ico/ico5.png)
By Tantawy Azza,Sherif Eman,Adly Amira,Hassanine Sahar,Awad Amina in (2013)
Journal of Inherited Metabolic Disease , Vol. 36, Iss. 6, 2013-11 , pp.![](/images/ico/ico5.png)
Disappearance of congenital noncompaction in hereditary cobalamin-C-deficiency 2.5 years after birth
By Finsterer Josef,Stöllberger Claudia in (2013)
Journal of Inherited Metabolic Disease , Vol. 36, Iss. 6, 2013-11 , pp.![](/images/ico/ico5.png)
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)
Journal of Inherited Metabolic Disease , Vol. 36, Iss. 6, 2013-11 , pp.![](/images/ico/ico5.png)
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)
Journal of Inherited Metabolic Disease , 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 , 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 , Vol. 36, Iss. 6, 2013-11 , pp.![](/images/ico/ico5.png)
By Tanpaiboon Pranoot,Venditti Charles in (2013)
Journal of Inherited Metabolic Disease , 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 , Vol. 36, Iss. 6, 2013-11 , pp.