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Proposal for a simplified classification of IMD based on a pathophysiological approach: A practical guide for clinicians.
Saudubray, Jean-Marie; Mochel, Fanny; Lamari, Foudil; Garcia-Cazorla, Angeles.
Affiliation
  • Saudubray JM; Groupe de Recherche Clinique Neurométabolique, Université Pierre et Marie Curie, Paris, France.
  • Mochel F; Groupe de Recherche Clinique Neurométabolique, Université Pierre et Marie Curie, Paris, France.
  • Lamari F; Centre de Référence Neurométabolique Adulte, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
  • Garcia-Cazorla A; Sorbonne Universités, UPMC-Paris 6, UMR S 1127 and Inserm U 1127, and CNRS UMR 7225, and ICM, F-75013, Paris, France.
J Inherit Metab Dis ; 42(4): 706-727, 2019 07.
Article in En | MEDLINE | ID: mdl-30883825
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Full text: 1 Database: MEDLINE Main subject: Metabolism, Inborn Errors Type of study: Diagnostic_studies Limits: Humans / Newborn Language: En Journal: J Inherit Metab Dis Year: 2019 Type: Article Affiliation country: France
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Full text: 1 Database: MEDLINE Main subject: Metabolism, Inborn Errors Type of study: Diagnostic_studies Limits: Humans / Newborn Language: En Journal: J Inherit Metab Dis Year: 2019 Type: Article Affiliation country: France