Clinical and biochemical outcome after hydroxocobalamin dose escalation in a series of patients with cobalamin C deficiency

Molecular Genetics and Metabolism

Volumn 109, Issue 4, 2013, Pages 360-365

  Matos, I Vaz ^a   Castejon E ^a   Meavilla, S ^a   O'Callaghan, M ^a,c   Garcia Villoria, J ^b,c   Lopez Sala A ^a   Ribes, A ^b,c   Artuch, R ^a,c   Garcia Cazorla, A ^a,c  

^a HOSPITAL SANT JOAN DE DÉU   (Spain)

^b HOSPITAL CLÍNIC   (Spain)

^c INSTITUTO DE SALUD CARLOS III   (Spain)

Author keywords

Behavioral disturbances; Cobalamin C; Expressive language disorder; Homocysteine; Hydroxocobalamin treatment; Methylmalonic acid

Indexed keywords

AMINO ACID; HOMOCYSTEINE; HYDROXOCOBALAMIN; METHYLMALONIC ACID; CYANOCOBALAMIN;

ARTICLE; BEHAVIOR; CLINICAL ARTICLE; CLINICAL EXAMINATION; COBALAMIN C DEFICIENCY; COMMUNICATION SKILL; DRUG MEGADOSE; FEMALE; HUMAN; LANGUAGE; MALE; METABOLIC REGULATION; OPEN STUDY; OUTCOME ASSESSMENT; PRIORITY JOURNAL; VITAMIN DEFICIENCY; CHILD; DOSE RESPONSE; HOMOCYSTINURIA; METABOLISM; ONSET AGE; PATHOLOGY; PRESCHOOL CHILD; TREATMENT OUTCOME; VITAMIN B 12 DEFICIENCY;

AGE OF ONSET; CHILD; CHILD, PRESCHOOL; DOSE-RESPONSE RELATIONSHIP, DRUG; FEMALE; HOMOCYSTINURIA; HUMANS; HYDROXOCOBALAMIN; MALE; TREATMENT OUTCOME; VITAMIN B 12; VITAMIN B 12 DEFICIENCY;

EID: 84880781675     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2013.05.007     Document Type: Article

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