Clinical presentation and outcome in a series of 88 patients with the cblC defect

Journal of Inherited Metabolic Disease

Volumn 37, Issue 5, 2014, Pages 831-840

  Fischer, Sabine ^a   Huemer, Martina ^b,c   Baumgartner, Matthias ^b   Deodato, Federica ^d   Ballhausen, Diana ^e   Boneh, Avihu ^f   Burlina, Alberto B ^g   Cerone, Roberto ^h   Garcia, Paula ⁱ   Gökçay, Gülden ^j   Grünewald, Stephanie ^k   Häberle, Johannes ^b   Jaeken, Jaak ^l   Ketteridge, David ^m   Lindner, Martin ⁿ   Mandel, Hanna ^o   Martinelli, Diego ^d   Martins, Esmeralda G ^p   Schwab, Karl O ^q   Gruenert, Sarah C ^q   Schwahn, Bernd C ^r   Sztriha, László ^s   Tomaske, Maren ^b,t   Trefz, Friedrich ^u   Vilarinho, Laura ^v   Rosenblatt, David S ^w   Fowler, Brian ^a,b   Dionisi Vici, Carlo ^d   more..

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^c Landeskrankenhaus Bregenz ^*  (Austria)

^d BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^e LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^f MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^g UNIVERSITY HOSPITAL OF PADOVA   (Italy)

^h G GASLINI INSTITUTE   (Italy)

ⁱ CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

^j ISTANBUL UNIVERSITY   (Turkey)

^k UNIVERSITY COLLEGE LONDON   (United Kingdom)

^l UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^m WOMEN S AND CHILDREN S HOSPITAL   (Australia)

ⁿ UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^o TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^p Institute of Biomedical Sciences Abel Salazar   (Portugal)

^q UNIVERSITY OF FREIBURG   (Germany)

^r ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^s UNIVERSITY OF SZEGED   (Hungary)

^t UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^u Kreiskliniken Reutlingen   (Germany)

^v NATIONAL INSTITUTE OF HEALTH   (Portugal)

^w MCGILL UNIVERSITY   (Canada)

more..

Author keywords

[No Author keywords available]

Indexed keywords

BETAINE; CARNITINE; FOLIC ACID; FOLINIC ACID; HOMOCYSTEINE; HYDROXOCOBALAMIN; METHIONINE; CARRIER PROTEIN; CBL PROTEIN; CBLC PROTEIN, HUMAN; CYANOCOBALAMIN; MMACHC PROTEIN, HUMAN;

ADOLESCENT; AGE DISTRIBUTION; ALLELE; ARTICLE; ASIAN; BRAIN ATROPHY; CAUCASIAN; CHILD; CLINICAL FEATURE; CYANOCOBALAMIN DEFECT; DEVELOPMENTAL DISORDER; DISEASE COURSE; DISEASE SEVERITY; EUROPEAN; FEEDING DIFFICULTY; FEMALE; FOLLOW UP; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; GROUPS BY AGE; HOMOZYGOSITY; HUMAN; HYDROCEPHALUS; INBORN ERROR OF METABOLISM; INFANT; LETHARGY; MAJOR CLINICAL STUDY; MALE; MULTICENTER STUDY; MUSCLE HYPOTONIA; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; OUTCOME ASSESSMENT; PROBLEM BEHAVIOR; RETROSPECTIVE STUDY; SEX RATIO; SPINAL CORD DISEASE; WHITE MATTER LESION; BRAIN; ETHNIC GROUP; GENETICS; METABOLISM; METABOLISM, INBORN ERRORS; PATHOLOGY; PRESCHOOL CHILD; PROGNOSIS; QUESTIONNAIRE;

AGE OF ONSET; BRAIN; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; DISEASE PROGRESSION; ETHNIC GROUPS; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; METABOLISM, INBORN ERRORS; PROGNOSIS; PROTO-ONCOGENE PROTEINS C-CBL; QUESTIONNAIRES; VITAMIN B 12;

EID: 84930004639     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-014-9687-6     Document Type: Article

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