Inborn Errors of Metabolism Overview-Reference-Cited by-同舟云学术

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Inborn Errors of Metabolism Overview

Published:2018-04 Issue:2 Volume:65 Page:179-208
ISSN:0031-3955
Container-title:Pediatric Clinics of North America
language:en
Short-container-title:Pediatric Clinics of North America

Author:

Saudubray Jean-Marie,Garcia-Cazorla Àngels

Funder

Plan Nacional de I+D+I and Instituto de Salud Carlos III- Subdireccion General de Evaluacion y Fomento de la Investigacion Sanitaria

European Regional Development Fund

Publisher

Elsevier BV

Subject

Pediatrics, Perinatology, and Child Health

Reference34 articles.

1. Clinical approach to treatable inborn metabolic diseases: an introduction;Saudubray;J Inherit Metab Dis,2006

2. SLC39A8 deficiency: a disorder of manganese transport and glycosylation;Park;Am J Hum Genet,2015

3. Impaired amino acid transport at the blood brain barrier is a cause of autism spectrum disorder;Tarlungeanu;Cell,2016

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2. Causes and Terminology in Neonatal Encephalopathy;Clinics in Perinatology;2024-09

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5. Seizure Characteristics and EEG Features in Intoxication Type and Energy Deficiency Neurometabolic Disorders in the Pediatric Intensive Care Unit: Single-Center Experience Over 10 Years;Neurocritical Care;2024-08-13

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