GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
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Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
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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
Inherited Metabolic Diseases of the Nervous System, Inherited Hypeammonemia
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Infantile Bilateral Striatal Necrosis Maps to Chromosome 19q
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Clinical Approach to Inherited Peroxisomal Disorders: A Series of 27 Patients
Ann Neurol 44:720-730,713, Baumgartner,M.R.,et al, 1998
Congenital AIDS:Review of Neurological Problems
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Carbonic Anhydrase II Deficiency in 12 Families with Osteopetrosis with Renal Tubular Acidosis & Cerebral Calcification
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Neurological Complications in Infants & Children with Acquired Immune Deficiency Syndrome
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