JOURNAL OF INHERITED METABOLIC DISEASE

医学 内分泌学与代谢

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  • 中科院分区:医学 2区 医学 2 区
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  • 自引率:15.3%
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  • ISSN:2190-572X
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  • 年文章数:454
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  • 研究方向:代谢
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3 BIOTECH杂志暂不明确行业,暂不明确子行业的级别不明杂志

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杂志水平一般,也很冷门,关注人少,审稿周期可能也不一定快,如果文章质量不佳,或时间不紧的话,可以考虑考虑。

A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families.

DOI:10.1002/jimd.12526

发表时间:2022 May 27

作者:Ganapathi M;Friocourt G;Gueguen N;Friederich MW;Le Gac G;Okur V;Loaëc N;Ludwig T;Ka C;Tanji K;Marcorelles P;Theodorou E;Lignelli-Dipple A;Voisset C;Walker MA;Briere LC;Bourhis A;Blondel M;LeDuc C;Hagen J;Cooper C;Muraresku C;Ferec C;Garenne A;Lelez-Soquet S;Rogers CA;Shen Y;Strode DK;Bizargity P;Iglesias A;Goldstein A;High FA;Undiagnosed Diseases Network.;Sweetser DA;Ganetzky R;Van Hove JLK;Procaccio V;Le Marechal C;Chung WK

Pregnancy in cystinosis patients with chronic kidney disease: A European case series.

DOI:10.1002/jimd.12529

发表时间:2022 Jun 17

作者:Servais A;Janssen MCH;Blakey H;Greco M;Lemoine S;Martin-Moreno PL;Game D;Levtchenko E;Lipkin G;Metabolic Nephropathy Workgroup of the European Reference Network for Rare Kidney Diseases (ERKNet) and the ERA working groups on inherited kidney diseases (WGIKD).

ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines.

DOI:10.1002/jimd.12527

发表时间:2022 Jun 18

作者:Albokhari D;Ng BG;Guberinic A;Daniel EJP;Engelhardt NM;Barone R;Fiumara A;Garavelli L;Trimarchi G;Wolfe L;Raymond KM;Morava E;He M;Freeze HH;Lam C;Edmondson AC

Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway.

DOI:10.1002/jimd.12528

发表时间:2022 Jun 20

作者:van Vliet K;van Ginkel WG;Jahja R;Daly A;MacDonald A;Santra S;De Laet C;Goyens PJ;Vara R;Rahman Y;Cassiman D;Eyskens F;Timmer C;Mumford N;Gissen P;Bierau J;van Hasselt PM;Wilcox G;Morris AAM;Jameson EA;de la Parra A;Arias C;Garcia MI;Cornejo V;Bosch AM;Hollak CEM;Rubio-Gozalbo ME;Brouwers MCGJ;Hofstede FC;de Vries MC;Janssen MCH;van der Ploeg AT;Langendonk JG;Huijbregts SCJ;van Spronsen FJ

Ornithine transcarbamylase deficiency: A diagnostic odyssey.

DOI:10.1002/jimd.12530

发表时间:2022 Jun 23

作者:Knerr I;Cassiman D

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