FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
Mol Genet Metab 125:281-291, Almannai, M.,et al, 2018
Molybdenum Cofactor Deficiency
Neurol 85:e175-e178, Nagappa, M.,et al, 2015
A Floppy Child with Failure to Thrive
Lancet 366:176, Loma-Sanner,I.,et al, 2005
Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
Melas Syndrome
Stat PearlsPubl Jan 25, Pia,S. & Lui,F., 2025
Neuroimaging Changes in Menkes Disease, Part 1
AJNR 38:1850-1857, Manara, R.,et al, 2017
GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
Neurol 77:1287-1294, Prust, M.,et al, 2011
Cystic Fibrosis Presenting With Intracerebral Haemorrhage
Lancet 358:1960, Merelle,M.E.,et al, 2001
Clinical Approach to Inherited Peroxisomal Disorders: A Series of 27 Patients
Ann Neurol 44:720-730,713, Baumgartner,M.R.,et al, 1998
Leukotriene C4-synthesis Deficiency:A New Inborn Error of Metabolism Linked to a Fatal Developmental Syndrome
Lancet 352:1514-1517,1487, Mayatepek,E.&Flock.B., 1998
Long-Term Neurologic Consequences of Nutritional Vitamin B12 Deficiency in Infants
J Pediatr 121:710-714, Graham,S.M.,et al, 1992