journal of inherited metabolic disease

Indexings	ncbi ulakbim sci
Short Name	j inherit metab dis
Abbreviated Name	j inherit metab dis
ISSN	1573-2665
Aim and Scope
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Publications Per Year

Recent Articles (67 total)

2014

educação e modernização em minas gerais: propostas reformistas na ação conservadora (1926-1930) - education and modernization in minas gerais: reform proposals conservative in action (1926-1930)

;Pâmela Faria Oliveira;Carlos Henrique de Carvalho, Brasil

Vol. 18 , No. 42 , pp. 131-150

294 views Abstract

2014

genealogia feminina: diálogo silencioso entre gerações - female genealogy: silent dialogue between generations

;Flávia Obino Corrêa Werle, Brasil

Vol. 18 , No. 43 , pp. 127-143

240 views Abstract

2020

Dietary lipids in glycogen storage disease type III: a systematic literature study, case studies and future recommendations.

Rossi, Alessandro;Hoogeveen, Irene J;Bastek, Vanessa B;de Boer, Foekje;Montanari, Chiara;Meyer, Uta;Maiorana, Arianna;Bordugo, Andrea;Dianin, Alice;Campana, Carmen;Rigoldi, Miriam;Kishnani, Priya S;Pendyal, Surekha;Strisciuglio, Pietro;Gasperini, Serena;Parenti, Giancarlo;Parini, Rossella;Paci, Sabrina;Melis, Daniela;Derks, Terry G J;

235 views DOI Abstract

2007

Implementation of extended neonatal screening and a metabolic unit in the State of Qatar: developing and optimizing strategies in cooperation with the Neonatal Screening Center in Heidelberg.

Lindner, M;Abdoh, G;Fang-Hoffmann, J;Shabeck, N;Al-Sayrafi, M;Al-Janahi, M;Ho, S;Abdelrahman, M O;Ben-Omran, T;Bener, A;Schulze, A;Al-Rifai, H;Al-Thani, G;Hoffmann, G F;

Vol. 30 , No. 4 , pp. 522-9

230 views Abstract

2010

Maternal and fetal tyrosinemia type I.

Garcia Segarra, N;Roche, S;Imbard, A;Benoist, J F;Grenèche, M O;Davit-Spraul, A;Ogier de Baulny, H;

Vol. 33 Suppl 3 , pp. S507-10

222 views DOI Abstract

2020

Magnetic resonance imaging reveals specific anatomical changes in the brain of Agat- and Gamt-mice attributed to creatine depletion and guanidinoacetate alteration.

Sinha, Ankit;Ahmed, Sohail;George, Chris;Tsagaris, Melina;Naufer, Amriya;von Both, Ingo;Tkachyova, Ilona;van Eede, Matthijs;Henkelman, Mark;Schulze, Andreas;

219 views DOI Abstract

2011

história curricular dos cursos de graduação da área da saúde - curricular history graduate courses of the health area

;Renata Aparecida Belei, Sandra Regina Gimeniz-Paschoal;Edinalva Neves Nascimento

Vol. 12 , No. 24 , pp. 101-120

215 views Abstract

2011

um estudo acerca da história de vida profissional de professoras primárias leigas - a study about professional life history of primary schools teachers

;Lisiane Sias Manke

Vol. 12 , No. 25 , pp. 153-178

200 views Abstract

2014