Recurrent rhabdomyolysis in a patient with oculocutaneous albinism type 1 and platelet storage-pool deficiency.
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Publication year
2008Source
American Journal of Medical Genetics. Part A, 146A, 23, (2008), pp. 3100-3ISSN
Publication type
Article / Letter to editor
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Organization
Neurology
Human Genetics
Paediatrics - OUD tm 2017
Journal title
American Journal of Medical Genetics. Part A
Volume
vol. 146A
Issue
iss. 23
Page start
p. 3100
Page end
p. 3
Subject
DCN 1: Perception and Action; DCN 2: Functional Neurogenomics; IGMD 3: Genomic disorders and inherited multi-system disorders; IGMD 4: Glycostation disorders; IGMD 8: Mitochondrial medicine; NCMLS 4: Energy and redox metabolism; UMCN 3.1: Neuromuscular development and genetic disorders; UMCN 5.1: Genetic defects of metabolism; UMCN 5.3: Cellular energy metabolismThis item appears in the following Collection(s)
- Academic publications [243984]
- Electronic publications [130695]
- Faculty of Medical Sciences [92811]
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