CblE type of homocystinuria: Mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene

Journal of Inherited Metabolic Disease

Volumn 26, Issue 4, 2003, Pages 361-369

  Vilaseca, M A ^a   Vilarinho, L ^b   Zavadakova, P ^c   Vela, E ^a   Cleto, E ^d   Pineda, M ^a   Coimbra, E ^d   Suormala, T ^e   Fowler, B ^e   Kozich, V ^c  

^a HOSPITAL SANT JOAN DE DÉU   (Spain)

^b NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

^c Charles University in Prague and General University Hospital in Prague   (Czech Republic)

^d HOSPITAL DE SANTO ANTÓNIO   (Portugal)

^e UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

BETAINE DERIVATIVE; COBALAMIN; COBALT 57; CYANOCOBALAMIN; FOLIC ACID; FOLINIC ACID; HOMOCYSTEINE; HYDROXOCOBALAMIN; LEUCINE; MECOBALAMIN; METHIONINE SYNTHASE; METHYLMALONIC ACID; OXIDOREDUCTASE; PYRIDOXINE; RIBOFLAVIN; SERINE;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; BRAIN ATROPHY; BRAIN INJURY; BRAIN ISCHEMIA; CASE REPORT; CHEMICAL LABELING; CLINICAL FEATURE; CLINICAL OBSERVATION; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; ENZYME ANALYSIS; ENZYME DEFICIENCY; EVOKED SOMATOSENSORY RESPONSE; FEEDING DISORDER; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC COMPLEMENTATION; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HOMOCYSTINURIA; HOMOZYGOSITY; HUMAN; MALE; MEGALOBLASTIC ANEMIA; MEGALOCYTOSIS; METHYLMALONIC ACIDURIA; NEUROLOGIC EXAMINATION; NEUROPHYSIOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PORTUGAL; PROTEIN DOMAIN; SCHOOL CHILD; SPAIN;

ADOLESCENT; CHILD; CYTOSINE; FEMALE; FERREDOXIN-NADP REDUCTASE; HOMOCYSTINURIA; HOMOZYGOTE; HUMANS; MALE; MUTATION; PHENOTYPE; THYMINE;

EID: 10744232322     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1025159103257     Document Type: Article

References (19)

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