Proposal for a simplified classification of IMD based on a pathophysiological approach: A practical guide for clinicians-Reference-Cited by-同舟云学术

Proposal for a simplified classification of IMD based on a pathophysiological approach: A practical guide for clinicians

Published:2019-04-24 Issue:4 Volume:42 Page:706-727
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

Author:

Saudubray Jean‐Marie¹^ORCID,Mochel Fanny¹²³⁴,Lamari Foudil¹²⁵,Garcia‐Cazorla Angeles⁶

Affiliation:

1. Groupe de Recherche Clinique Neurométabolique, Université Pierre et Marie Curie Paris France

2. Centre de Référence Neurométabolique Adulte Groupe Hospitalier Pitié‐Salpêtrière Paris France

3. Sorbonne Universités, UPMC‐Paris 6, UMR S 1127 and Inserm U 1127, and CNRS UMR 7225, and ICM, F‐75013 Paris France

4. Département de Génétique Assistance Publique‐Hôpitaux de Paris, Groupe Hospitalier Pitié‐Salpêtrière Paris France

5. Département de Biochimie Assistance Publique‐Hôpitaux de Paris, Groupe Hospitalier Pitié‐Salpêtrière Paris France

6. Neurology Department, Neurometabolic Unit and Synaptic Metabolism Lab Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, metabERN and CIBERER‐ISCIII Barcelona Spain

Funder

European Regional Development Fund

Instituto de Salud Carlos III

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12086

Reference89 articles.

1. Quo vadis: the re-definition of “inborn metabolic diseases”

2. The role of the clinician in the multi-omics era: are you ready?

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4. Cellular neurometabolism: a tentative to connect cell biology and metabolism in neurology

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