Guidelines in the JIMD: Evidence-based practice for inherited metabolic disease

被引：0

作者：

Rahman, Shamima ^{[1
,2
]}

Patterson, Marc ^{[3
,4
,5
]}

Peters, Verena ^{[6
]}

Morava, Eva ^{[7
]}

Zschocke, Johannes ^{[8
]}

Baumgartner, Matthias ^{[9
,10
]}

机构：

[1] UCL Great Ormond St Inst Child Hlth, London, England

[2] Great Ormond St Hosp Children NHS Fdn Trust, London, England

[3] Mayo Clin Rochester, Dept Neurol, Rochester, MN USA

[4] Mayo Clin Rochester, Dept Pediat, Rochester, MN USA

[5] Mayo Clin Rochester, Dept Clin Genom, Rochester, MN USA

[6] Univ Hosp Heidelberg, Ctr Paediat & Adolescent Med, Heidelberg, Germany

[7] Mayo Clin Rochester, Dept Clin Genom, Rochester, MN USA

[8] Med Univ Innsbruck, Inst Human Genet, Innsbruck, Austria

[9] Univ Zurich, Univ Childrens Hosp Zurich, Div Metab, Zurich, Switzerland

[10] Great Ormond St Hosp Children NHS Fdn Trust, Univ Childrens Hosp Zurich, Childrens Res Ctr, London, England

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 2023年 / 46卷 / 04期

关键词：

MANAGEMENT; DIAGNOSIS; DISORDERS; CONSENSUS;

D O I：

10.1002/jimd.12620

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：537 / 538

页数：2

共 22 条

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