Early onset methylmalonic aciduria and homocystinuria cblC type with demyelinating neuropathy.

Barbara Tavazzi; D Frattini; C Fusco

Early onset methylmalonic aciduria and homocystinuria cblC type with demyelinating neuropathy.

Barbara Tavazzi, D Frattini, C Fusco

Risultato della ricerca: Contributo in rivista › Articolo in rivista › peer review

Abstract

Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B(12) (cobalamin) metabolism. The recent cloning of the disease gene, MMACHC, has permitted genotype-phenotype correlation. In a 1-year-old girl, compound heterozygous c.271dupA and c.616C>T mutations in MMACHC were identified as causing an early onset methylmalonic aciduria and homocystinuria, cblC type, which was complicated by sensorimotor peripheral demyelinating neuropathy.

Lingua originale	English
pagine (da-a)	135-138
Numero di pagine	4
Rivista	Pediatric Neurology
Volume	43
Stato di pubblicazione	Pubblicato - 2010

Keywords

demyelinating neuropathy
homocystinuria cblC type
methylmalonic aciduria

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title = "Early onset methylmalonic aciduria and homocystinuria cblC type with demyelinating neuropathy.",

abstract = "Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B(12) (cobalamin) metabolism. The recent cloning of the disease gene, MMACHC, has permitted genotype-phenotype correlation. In a 1-year-old girl, compound heterozygous c.271dupA and c.616C>T mutations in MMACHC were identified as causing an early onset methylmalonic aciduria and homocystinuria, cblC type, which was complicated by sensorimotor peripheral demyelinating neuropathy.",

keywords = "demyelinating neuropathy, homocystinuria cblC type, methylmalonic aciduria, demyelinating neuropathy, homocystinuria cblC type, methylmalonic aciduria",

author = "Barbara Tavazzi and D Frattini and C Fusco",

year = "2010",

language = "English",

volume = "43",

pages = "135--138",

journal = "Pediatric Neurology",

issn = "0887-8994",

publisher = "Elsevier Science Incorporated / NY Journals:Madison Square Station, PO Box 882:New York, NY 10159:(212)633-3730, EMAIL: usinfo-f@elsevier.com, INTERNET: http://www.elsevier.com, Fax: (212)633-3680",

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TY - JOUR

T1 - Early onset methylmalonic aciduria and homocystinuria cblC type with demyelinating neuropathy.

AU - Tavazzi, Barbara

AU - Frattini, D

AU - Fusco, C

PY - 2010

Y1 - 2010

N2 - Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B(12) (cobalamin) metabolism. The recent cloning of the disease gene, MMACHC, has permitted genotype-phenotype correlation. In a 1-year-old girl, compound heterozygous c.271dupA and c.616C>T mutations in MMACHC were identified as causing an early onset methylmalonic aciduria and homocystinuria, cblC type, which was complicated by sensorimotor peripheral demyelinating neuropathy.

AB - Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B(12) (cobalamin) metabolism. The recent cloning of the disease gene, MMACHC, has permitted genotype-phenotype correlation. In a 1-year-old girl, compound heterozygous c.271dupA and c.616C>T mutations in MMACHC were identified as causing an early onset methylmalonic aciduria and homocystinuria, cblC type, which was complicated by sensorimotor peripheral demyelinating neuropathy.

KW - demyelinating neuropathy

KW - homocystinuria cblC type

KW - methylmalonic aciduria

KW - demyelinating neuropathy

KW - homocystinuria cblC type

KW - methylmalonic aciduria

UR - http://hdl.handle.net/10807/5321

M3 - Article

VL - 43

SP - 135

EP - 138

JO - Pediatric Neurology

JF - Pediatric Neurology

SN - 0887-8994

ER -

Early onset methylmalonic aciduria and homocystinuria cblC type with demyelinating neuropathy.

Abstract

Keywords

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