Thiamine-responsive megaloblastic anaemia syndrome: Long-term follow-up and mutation analysis of seven families

Acta Paediatrica, International Journal of Paediatrics

Volumn 95, Issue 1, 2006, Pages 99-104

  Ricketts, Christopher J ^a   Minton, Jayne A ^a   Samuel, Jacob ^b   Ariyawansa, Indra ^c   Wales, Jerry K ^d   Lo, Ivan F ^e   Barrett, Timothy G ^a,f  

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^b QUEEN S HOSPITAL   (United Kingdom)

^c Rochdale Infirmary   (United Kingdom)

^d SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

^e Clinical Genetic Service   (Hong Kong)

^f BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

Diabetes; SLC19A2; Thiamine

Indexed keywords

INSULIN; THIAMINE;

ADOLESCENT; ADULT; ALLELE; ANEMIA; ARTICLE; BLOOD TRANSFUSION; BONE MARROW; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE COURSE; DRUG EFFICACY; FAMILY; FEMALE; FOLLOW UP; GENE; GENE IDENTIFICATION; GENE MUTATION; GENOTYPE; HOMOZYGOSITY; HUMAN; INSULIN DEFICIENCY; INSULIN DEPENDENCE; INSULIN DEPENDENT DIABETES MELLITUS; INSULIN TREATMENT; LONG TERM CARE; MALE; MEGALOBLASTIC ANEMIA; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PERCEPTION DEAFNESS; PHENOTYPE; PRIORITY JOURNAL; PUBERTY; SIDEROBLASTIC ANEMIA; SUPPLEMENTATION; TREATMENT RESPONSE;

ADOLESCENT; ADULT; ANEMIA, MEGALOBLASTIC; CHILD; CHILD, PRESCHOOL; DEAFNESS; DIABETES MELLITUS; DNA MUTATIONAL ANALYSIS; FEMALE; FOLLOW-UP STUDIES; HUMANS; INDIA; MALE; MEMBRANE TRANSPORT PROTEINS; MUTATION, MISSENSE; PEDIGREE; SYNDROME; THIAMINE; THIAMINE DEFICIENCY;

EID: 29944432489     PISSN: 08035253     EISSN: 15023869     Source Type: Journal    
DOI: 10.1080/08035250500323715     Document Type: Article

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