Subacute combined degeneration of the spinal cord in cblC disorder despite treatment with B12

Molecular Genetics and Metabolism

Volumn 88, Issue 2, 2006, Pages 138-145

  Smith, Sharon E ^a,b   Kinney, Hannah C ^a,b   Swoboda, Kathryn J ^c   Levy, Harvey L ^a,b  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

cblC disorder; Cobalamin; Demyelination; Homocysteine; Homocystinuria; Inborn errors of metabolism; Methionine; Methylmalonic acid; Methylmalonic acidemia; Myelopathy; Neuropathology; Peripheral neuropathy; Remethylation; Subacute combined degeneration

Indexed keywords

BETAINE; CYANOCOBALAMIN; HYDROXOCOBALAMIN; MECOBALAMIN; METHIONINE;

ADOLESCENT; ARTICLE; CASE REPORT; CELL VACUOLE; COBALAMIN C DISORDER; CYANOCOBALAMIN DEFICIENCY; DEMYELINATION; HUMAN; INBORN ERROR OF METABOLISM; MALE; METHYLATION; NEUROPATHOLOGY; ONSET AGE; PRIORITY JOURNAL; SPINAL CORD ATROPHY;

ADOLESCENT; BRAIN; CHILD; CHILD, PRESCHOOL; FATAL OUTCOME; HUMANS; HYDROXOCOBALAMIN; INFANT; INFANT, NEWBORN; MALE; MEDIAN NERVE; METABOLISM, INBORN ERRORS; MUSCLE, SKELETAL; NEURODEGENERATIVE DISEASES; SPINAL CORD; SPINAL CORD DISEASES; VITAMIN B 12;

EID: 33646435274     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2006.02.007     Document Type: Article

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