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Results: 1-8 |
Results: 8
INCIDENCE OF BIOTINIDASE DEFICIENCY IN TURKISH NEWBORNS
Authors: BAYKAL T HUNER G SARBAT G DEMIRKOL M
Citation: T. Baykal et al., INCIDENCE OF BIOTINIDASE DEFICIENCY IN TURKISH NEWBORNS, Acta paediatrica, 87(10), 1998, pp. 1102-1103
PARTIAL BIOTINIDASE DEFICIENCY IS USUALLY DUE TO THE D444H MUTATION IN THE BIOTINIDASE GENE (VOL 102, PG 571, 1998)
Authors: SWANGO KL DEMIRKOL M HUNER G PRONICKA E SYKUTCEGIELSKA J SCHULZE A MAYATEPEK E WOLF B
Citation: Kl. Swango et al., PARTIAL BIOTINIDASE DEFICIENCY IS USUALLY DUE TO THE D444H MUTATION IN THE BIOTINIDASE GENE (VOL 102, PG 571, 1998), Human genetics, 102(6), 1998, pp. 712-712
PARTIAL BIOTINIDASE DEFICIENCY IS USUALLY DUE TO THE D444H MUTATION IN THE BIOTINIDASE GENE
Authors: SWANGO KL DEMIRKOL M HUNER G PRONICKA E SYKUTCEGIELSKA J SCHULZE A WOLF B
Citation: Kl. Swango et al., PARTIAL BIOTINIDASE DEFICIENCY IS USUALLY DUE TO THE D444H MUTATION IN THE BIOTINIDASE GENE, Human genetics, 102(5), 1998, pp. 571-575
MOLECULAR ASPECTS OF GLYCOGEN-STORAGE-DISEASE TYPE IA IN TURKISH PATIENTS - A NOVEL MUTATION IN THE GLUCOSE-6-PHOSPHATASE GENE
Authors: HUNER G PODSKARBI T SCHUTZ M BAYKAL T SARBAT G SHIN YS DEMIRKOL M
Citation: G. Huner et al., MOLECULAR ASPECTS OF GLYCOGEN-STORAGE-DISEASE TYPE IA IN TURKISH PATIENTS - A NOVEL MUTATION IN THE GLUCOSE-6-PHOSPHATASE GENE, Journal of inherited metabolic disease, 21(4), 1998, pp. 445-446
THE INFLUENCE OF A SEVERE BURN INJURY ON THE DISTRIBUTION OF CARNITINE BETWEEN BLOOD-CELLS
Authors: BOHLES H DEMIRKOL M SEWELL AC
Citation: H. Bohles et al., THE INFLUENCE OF A SEVERE BURN INJURY ON THE DISTRIBUTION OF CARNITINE BETWEEN BLOOD-CELLS, Burns, 22(2), 1996, pp. 166-166
NEUROLOGICAL DETERIORATION IN PATIENTS WITH UREA CYCLE DISORDERS UNDER VALPROATE THERAPY - A CAUSE FOR CONCERN
Authors: SEWELL AC BOHLES HJ HERWIG J DEMIRKOL M
Citation: Ac. Sewell et al., NEUROLOGICAL DETERIORATION IN PATIENTS WITH UREA CYCLE DISORDERS UNDER VALPROATE THERAPY - A CAUSE FOR CONCERN, European journal of pediatrics, 154(7), 1995, pp. 593-594
CYSTIC-FIBROSIS PATIENTS FROM THE BLACK-SEA REGION - THE 1677DELTA MUTATION
Authors: ANGELICHEVA D BOTEVA K JORDANOVA A SAVOV A KUFARDJIEVA A TOLUN A TELATAR M AKARSUBASI A KOPRUBASI F AYDOGDU S DEMIRKOL M KURDOGLU G CONSTANTINOUDELTAS CD GEORGIOU C DEAN M IVASCHENKO T BARANOV V KALAYDJIEVA L
Citation: D. Angelicheva et al., CYSTIC-FIBROSIS PATIENTS FROM THE BLACK-SEA REGION - THE 1677DELTA MUTATION, Human mutation, 3(4), 1994, pp. 353-357
THE VARIATION OF CARNITINE CONTENT IN HUMAN BLOOD-CELLS DURING DISEASE - A STUDY IN BACTERIAL-INFECTION AND INFLAMMATORY BOWEL-DISEASE
Authors: DEMIRKOL M SEWELL AC BOHLES H
Citation: M. Demirkol et al., THE VARIATION OF CARNITINE CONTENT IN HUMAN BLOOD-CELLS DURING DISEASE - A STUDY IN BACTERIAL-INFECTION AND INFLAMMATORY BOWEL-DISEASE, European journal of pediatrics, 153(8), 1994, pp. 565-568
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