Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type).

Journal of inherited metabolic disease

Volumn 30, Issue 5, 2007, Pages 811-

  Heil, Sandra G ^a   Hogeveen, Marije ^a   Kluijtmans, Leo A J ^a   van Dijken, P J ^a   van de Berg, Gerard B ^a   Blom, Henk J ^a   Morava, Eva ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CARNITINE; CARRIER PROTEIN; CYANOCOBALAMIN; CYSTEINE; FOLIC ACID; HOMOCYSTEINE; METHYLMALONIC ACID; MMACHC PROTEIN, HUMAN; PYRIDOXINE; UNCLASSIFIED DRUG; VITAMIN;

ADOLESCENT; ARTICLE; BLOOD; CASE REPORT; CHILD; DIFFERENTIAL DIAGNOSIS; EXON; FEMALE; GENETIC SCREENING; GENETICS; HETEROZYGOTE; HOMOCYSTINURIA; HUMAN; INBORN ERROR OF METABOLISM; MALE; MARFAN SYNDROME; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; TREATMENT OUTCOME;

ADOLESCENT; CARNITINE; CARRIER PROTEINS; CHILD; CYSTEINE; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; FOLIC ACID; GENETIC SCREENING; HETEROZYGOTE; HOMOCYSTEINE; HOMOCYSTINURIA; HUMANS; MALE; MARFAN SYNDROME; METABOLISM, INBORN ERRORS; METHYLMALONIC ACID; MUTATION; PEDIGREE; PHENOTYPE; TREATMENT OUTCOME; VITAMIN B 12; VITAMIN B 6; VITAMINS;

EID: 35448950245     PISSN: None     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-007-0546-6     Document Type: Article

References (0)