Related Experiment Videos
Hyperglycinaemia in a child with carbohydrate-deficient glycoprotein syndrome type I
N V Subhedar1, D M Isherwood, D C Davidson
1Royal Liverpool Children's Hospital, Alder Hey, UK.
Journal of Inherited Metabolic Disease
|January 1, 1996
Abstract
No abstract available in PubMed .
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
Loss to follow-up after arthroplasty: a new use for registry data.
The Journal of bone and joint surgery. British volume·2012
Corticosteroids for treating hypotension in preterm infants.
The Cochrane database of systematic reviews·2007
Biochemical severity of thyroid ectopia in congenital hypothyroidism demonstrates sexual dimorphism.
European journal of endocrinology·2007
Guanidinoacetate methyltransferase deficiency masquerading as a mitochondrial encephalopathy.
Journal of inherited metabolic disease·2006
Nasal potential difference increases with gestation in moderately preterm neonates on the first postnatal day.
Archives of disease in childhood. Fetal and neonatal edition·2005
Longitudinal Assessment of Cognitive Development in 23 Patients With Mucopolysaccharidosis (MPS) Type II: Results of up to 14 Years of Follow-Up.
Journal of inherited metabolic disease·2026
Distinct Urea Cycle Dysfunction Profiles Differentiate Acute Metabolic Decompensation in TMEM70 and MT-ATP6-Related Mitochondrial ATP Synthase Defects.
Journal of inherited metabolic disease·2026
Sarcopenia in Pediatric Intoxication Type Inborn Errors of Metabolism: A Frequent and Underrecognized Condition.
Journal of inherited metabolic disease·2026
Genome Editing for Glycogen Storage Diseases.
Journal of inherited metabolic disease·2026
Results From a Phase 2, Open-Label Study Evaluating the Safety, Tolerability, and Effect on Ataxia of GLM101 in Three Adult Patients With PMM2-CDG.
Journal of inherited metabolic disease·2026
Mitochondrial CLPP in Health and Disease: Mechanisms, Therapeutic Duality and Emerging Opportunities.
Journal of inherited metabolic disease·2026