Central and peripheral nervous system pathology of homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency

An autopsy case of homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency is presented. A 15-year-old boy had mental retardation, epilepsy, and peripheral neuropathy. A sural nerve biopsy revealed a decreased number of myelinated fibers, abnormally thick myelinated fiber groups, a...

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Veröffentlicht in:	Pediatric neurology 1985-11, Vol.1 (6), p.375-378
Hauptverfasser:	Nishimura, Masaaki, Yoshino, Kunio, Tomita, Yutaka, Takashima, Sachio, Tanaka, Junichi, Narisawa, Kuniaki, Kurobane, Ikuo
Format:	Artikel
Sprache:	eng
Schlagworte:	5,10-Methylenetetrahydrofolate Reductase (FADH2) Adolescent Biopsy Brain - pathology Brain Diseases, Metabolic - pathology Homocystinuria - pathology Humans Male Methylenetetrahydrofolate Reductase (NADPH2) Nerve Fibers, Myelinated - pathology Oxidoreductases - deficiency Peripheral Nervous System Diseases - pathology Sural Nerve - pathology
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