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Results:
1-13
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Results: 13
Authors:
SUORMALA T
FOWLER B
JAKOBS C
DURAN M
LEHNERT W
RAAB K
WICK H
BAUMGARTNER ER
Citation: T. Suormala et al., LATE-ONSET HOLOCARBOXYLASE SYNTHETASE-DEFICIENCY - PRE-NATAL AND POSTNATAL DIAGNOSIS AND EVALUATION OF EFFECTIVENESS OF ANTENATAL BIOTIN THERAPY, European journal of pediatrics, 157(7), 1998, pp. 570-575
Authors:
WIESMANN UN
SUORMALA T
PFENNINGER J
BAUMGARTNER ER
Citation: Un. Wiesmann et al., PARTIAL 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY IN AN INFANT WITHFATAL OUTCOME DUE TO PROGRESSIVE RESPIRATORY-FAILURE, European journal of pediatrics, 157(3), 1998, pp. 225-229
Authors:
BAUR B
SUORMALA T
BERNOULLI C
BAUMGARTNER ER
Citation: B. Baur et al., BIOTIN DETERMINATION BY 3 DIFFERENT METHODS - SPECIFICITY AND APPLICATION TO URINE AND PLASMA ULTRAFILTRATES OF PATIENTS WITH AND WITHOUT DISORDERS IN BIOTIN METABOLISM, International journal for vitamin and nutrition research, 68(5), 1998, pp. 300-308
Authors:
WOLF B
POMPONIO RJ
NORRGARD KJ
LOTT IT
BAUMGARTNER ER
SUORMALA T
RAMAEKERS VT
COSKUN T
TOKATLI A
OZALP I
HYMES J
Citation: B. Wolf et al., DELAYED-ONSET PROFOUND BIOTINIDASE DEFICIENCY, The Journal of pediatrics, 132(2), 1998, pp. 362-365
Authors:
POMPONIO RJ
NORRGARD KJ
HYMES J
REYNOLDS TR
BUCK GA
BAUMGARTNER R
SUORMALA T
WOLF B
Citation: Rj. Pomponio et al., ARG538 TO CYS MUTATION IN A CPG DINUCLEOTIDE OF THE HUMAN BIOTINIDASEGENE IS THE 2ND MOST COMMON-CAUSE OF PROFOUND BIOTINIDASE DEFICIENCY IN SYMPTOMATIC CHILDREN, Human genetics, 99(4), 1997, pp. 506-512
Authors:
BAUMGARTNER ER
SUORMALA T
Citation: Er. Baumgartner et T. Suormala, MULTIPLE CARBOXYLASE DEFICIENCY - INHERITED AND ACQUIRED DISORDERS OFBIOTIN METABOLISM, International journal for vitamin and nutrition research, 67(5), 1997, pp. 377-384
Authors:
SUORMALA T
FOWLER B
DURAN M
BURTSCHER A
FUCHSHUBER A
TRATZMULLER R
LENZE MJ
RAAB K
BAUR B
WICK H
BAUMGARTNER R
Citation: T. Suormala et al., 5 PATIENTS WITH A BIOTIN-RESPONSIVE DEFECT IN HOLOCARBOXYLASE FORMATION - EVALUATION OF RESPONSIVENESS TO BIOTIN THERAPY IN-VIVO AND COMPARATIVE BIOCHEMICAL-STUDIES IN-VITRO, Pediatric research, 41(5), 1997, pp. 666-673
Authors:
LEHNERT W
NIEDERHOFF H
SUORMALA T
BAUMGARTNER ER
Citation: W. Lehnert et al., ISOLATED BIOTIN-RESISTANT 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY- LONG-TERM OUTCOME IN A CASE WITH NEONATAL ONSET, European journal of pediatrics, 155(7), 1996, pp. 568-572
Authors:
LIMAT A
SUORMALA T
HUNZIKER T
WAELTI ER
BRAATHEN LR
BAUMGARTNER R
Citation: A. Limat et al., PROLIFERATION AND DIFFERENTIATION OF CULTURED HUMAN FOLLICULAR KERATINOCYTES ARE NOT INFLUENCED BY BIOTIN, Archives of dermatological research, 288(1), 1996, pp. 31-38
Authors:
SUORMALA T
RAMAEKERS VT
SCHWEITZER S
FOWLER B
LAUB MC
SCHWERMER C
BACHMANN J
BAUMGARTNER ER
Citation: T. Suormala et al., BIOTINIDASE K-M-VARIANTS - DETECTION AND DETAILED BIOCHEMICAL INVESTIGATIONS, Journal of inherited metabolic disease, 18(6), 1995, pp. 689-700
ISOLATED (BIOTIN-RESISTANT) 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY - 4 SIBS DEVOID OF PATHOLOGY
Authors:
MOURMANS J
BAKKEREN J
DEJONG J
WEVERS R
VANDIGGELEN OP
SUORMALA T
BAUMGARTNER R
WENDEL U
Citation: J. Mourmans et al., ISOLATED (BIOTIN-RESISTANT) 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY - 4 SIBS DEVOID OF PATHOLOGY, Journal of inherited metabolic disease, 18(5), 1995, pp. 643-645
Authors:
LEHNERT W
SPERL W
SUORMALA T
BAUMGARTNER ER
Citation: W. Lehnert et al., PROPIONIC ACIDEMIA - CLINICAL, BIOCHEMICAL AND THERAPEUTIC ASPECTS - EXPERIENCE IN 30 PATIENTS, European journal of pediatrics, 153(7), 1994, pp. 190000068-190000080
Authors:
FUCHSHUBER A
SUORMALA T
ROTH B
DURAN M
MICHALK D
BAUMGARTNER ER
Citation: A. Fuchshuber et al., HOLOCARBOXYLASE SYNTHETASE DEFICIENCY - EARLY DIAGNOSIS AND MANAGEMENT OF A NEW CASE, European journal of pediatrics, 152(5), 1993, pp. 446-449
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