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Results: 1-18 |
Results: 18
AROMATIC L-AMINO-ACID DECARBOXYLASE DEFICIENCY - A NEW CASE WITH A MILD CLINICAL PRESENTATION AND UNEXPECTED LABORATORY FINDINGS
Authors: ABELING NGGM VANGENNIP AH BARTH PG VANCRUCHTEN A WESTRA M WIJBURG FA
Citation: Nggm. Abeling et al., AROMATIC L-AMINO-ACID DECARBOXYLASE DEFICIENCY - A NEW CASE WITH A MILD CLINICAL PRESENTATION AND UNEXPECTED LABORATORY FINDINGS, Journal of inherited metabolic disease, 21(3), 1998, pp. 240-242
ONCOLOGICAL IMPLICATIONS OF RET GENE-MUTATIONS IN HIRSCHSPRUNGS-DISEASE
Authors: SIJMONS RH HOFSTRA RMW WIJBURG FA LINKS TP ZWIERSTRA RP VERMEY A ARONSON DC TANSINDHUNATA G BROUWERSSMALBRAAK GJ MAAS SM BUYS CHCM
Citation: Rh. Sijmons et al., ONCOLOGICAL IMPLICATIONS OF RET GENE-MUTATIONS IN HIRSCHSPRUNGS-DISEASE, Gut, 43(4), 1998, pp. 542-547
IATROGENIC ISOLATED ISOLEUCINE DEFICIENCY AS THE CAUSE OF AN ACRODERMATITIS ENTEROPATHICA-LIKE SYNDROME
Authors: BOSCH AM SMITT JHS VANGENNIP AH ABELING NGGM SCHUTGENS RBH BAKKER HD WIJBURG FA
Citation: Am. Bosch et al., IATROGENIC ISOLATED ISOLEUCINE DEFICIENCY AS THE CAUSE OF AN ACRODERMATITIS ENTEROPATHICA-LIKE SYNDROME, British journal of dermatology, 139(3), 1998, pp. 488-491
SMITH-LEMLI-OPITZ-SYNDROME IS CAUSED BY MUTATIONS IN THE 7-DEHYDROCHOLESTEROL REDUCTASE GENE
Authors: WATERHAM HR WIJBURG FA HENNEKAM RCM VREKEN P POLLTHE BT DORLAND L DURAN M JIRA PE SMEITINK JAM WEVERS RA WANDERS RJA
Citation: Hr. Waterham et al., SMITH-LEMLI-OPITZ-SYNDROME IS CAUSED BY MUTATIONS IN THE 7-DEHYDROCHOLESTEROL REDUCTASE GENE, American journal of human genetics, 63(2), 1998, pp. 329-338
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA IS A PEROXISOMAL PROTEIN TARGETING DISEASE CAUSED BY A NONFUNCTIONAL PTS2 RECEPTOR
Authors: MOTLEY AM HETTEMA EH HOGENHOUT EM BRITES P TENASBROEK ALMA WIJBURG FA BAAS F HEIJMANS HS TABAK HF WANDERS RJA DISTEL B
Citation: Am. Motley et al., RHIZOMELIC CHONDRODYSPLASIA PUNCTATA IS A PEROXISOMAL PROTEIN TARGETING DISEASE CAUSED BY A NONFUNCTIONAL PTS2 RECEPTOR, Nature genetics, 15(4), 1997, pp. 377-380
HIGHLY INCREASED CSF CONCENTRATIONS OF CHOLESTEROL PRECURSORS IN SMITH-LEMLI-OPITZ-SYNDROME
Authors: VANROOIJ A NIJENHUIS AA WIJBURG FA SCHUTGENS RBH
Citation: A. Vanrooij et al., HIGHLY INCREASED CSF CONCENTRATIONS OF CHOLESTEROL PRECURSORS IN SMITH-LEMLI-OPITZ-SYNDROME, Journal of inherited metabolic disease, 20(4), 1997, pp. 578-580
FATAL NEONATAL LIVER-FAILURE AND DEPLETION OF MITOCHONDRIAL-DNA IN 3 CHILDREN OF ONE FAMILY
Authors: BAKKER HD VANDENBOGERT C SCHOLTE HR ZWART R WIJBURG FA SPELBRINK JN
Citation: Hd. Bakker et al., FATAL NEONATAL LIVER-FAILURE AND DEPLETION OF MITOCHONDRIAL-DNA IN 3 CHILDREN OF ONE FAMILY, Journal of inherited metabolic disease, 19(2), 1996, pp. 112-114
PRENATAL-DIAGNOSIS OF SYSTEMIC DISORDERS OF THE RESPIRATORY-CHAIN IN CULTURED CHORIONIC VILLUS FIBROBLASTS BY STUDY OF ATP-SYNTHESIS IN DIGITONIN-PERMEABILIZED CELLS
Authors: WANDERS RJA RUITER JPN WIJBURG FA ZEMAN J KLEMENT P HOUSTEK J
Citation: Rja. Wanders et al., PRENATAL-DIAGNOSIS OF SYSTEMIC DISORDERS OF THE RESPIRATORY-CHAIN IN CULTURED CHORIONIC VILLUS FIBROBLASTS BY STUDY OF ATP-SYNTHESIS IN DIGITONIN-PERMEABILIZED CELLS, Journal of inherited metabolic disease, 19(2), 1996, pp. 133-136
DEPLETION OF MITOCHONDRIAL DEOXYRIBONUCLEIC-ACID IN A FAMILY WITH FATAL NEONATAL LIVER-DISEASE
Authors: BAKKER HD SCHOLTE HR DINGEMANS KP SPELBRINK JN WIJBURG FA VANDENBOGERT C
Citation: Hd. Bakker et al., DEPLETION OF MITOCHONDRIAL DEOXYRIBONUCLEIC-ACID IN A FAMILY WITH FATAL NEONATAL LIVER-DISEASE, The Journal of pediatrics, 128(5), 1996, pp. 683-687
CAUSTIC INJURY OF THE ESOPHAGUS - 16 YEARS EXPERIENCE, AND INTRODUCTION OF A NEW MODEL ESOPHAGEAL STENT
Authors: BERKOVITS RNP BOS CE WIJBURG FA HOLZKI J
Citation: Rnp. Berkovits et al., CAUSTIC INJURY OF THE ESOPHAGUS - 16 YEARS EXPERIENCE, AND INTRODUCTION OF A NEW MODEL ESOPHAGEAL STENT, Journal of Laryngology and Otology, 110(11), 1996, pp. 1041-1045
PARTIAL DELETION OF 18P AND PARTIAL DUPLICATION OF 18Q CAUSED BY A PATERNAL PERICENTRIC-INVERSION
Authors: ISRAELS T HOOVERS J TURPIJN HM WIJBURG FA HENNEKAM RCM
Citation: T. Israels et al., PARTIAL DELETION OF 18P AND PARTIAL DUPLICATION OF 18Q CAUSED BY A PATERNAL PERICENTRIC-INVERSION, Clinical genetics, 50(6), 1996, pp. 520-524
TYROSINEMIA TYPE-I - CONSIDERATIONS OF TREATMENT STRATEGY AND EXPERIENCES WITH RISK ASSESSMENT, DIET AND TRANSPLANTATION
Authors: VANSPRONSEN FJ SMIT GPA WIJBURG FA THOMASSE Y VISSER G HEYMANS HSA
Citation: Fj. Vanspronsen et al., TYROSINEMIA TYPE-I - CONSIDERATIONS OF TREATMENT STRATEGY AND EXPERIENCES WITH RISK ASSESSMENT, DIET AND TRANSPLANTATION, Journal of inherited metabolic disease, 18(2), 1995, pp. 111-114
LIVER-TRANSPLANTATION IN TYROSINEMIA TYPE-I - THE GRONINGEN EXPERIENCE
Authors: WIJBURG FA REITSMA WCC SLOOFF MJH VANSPRONSEN FJ KOETSE HA REIJNGOUD DJ SMIT GPA BERGER R BIJLEVELD CMA
Citation: Fa. Wijburg et al., LIVER-TRANSPLANTATION IN TYROSINEMIA TYPE-I - THE GRONINGEN EXPERIENCE, Journal of inherited metabolic disease, 18(2), 1995, pp. 115-118
VARIATION IN MITOCHONDRIAL-DNA LEVELS IN MUSCLE FROM NORMAL CONTROLS - IS DEPLETION OF MTDNA IN PATIENTS WITH MITOCHONDRIAL MYOPATHY A DISTINCT CLINICAL SYNDROME
Authors: POULTON J SEWRY C POTTER CG BOUGERON T CHRETIEN D WIJBURG FA MORTEN KJ BROWN G
Citation: J. Poulton et al., VARIATION IN MITOCHONDRIAL-DNA LEVELS IN MUSCLE FROM NORMAL CONTROLS - IS DEPLETION OF MTDNA IN PATIENTS WITH MITOCHONDRIAL MYOPATHY A DISTINCT CLINICAL SYNDROME, Journal of inherited metabolic disease, 18(1), 1995, pp. 4-20
MITOCHONDRIAL OXIDATIVE-PHOSPHORYLATION IN DIGITONIN-PERMEABILIZED CHORIONIC VILLUS FIBROBLASTS - A NEW METHOD WITH POTENTIAL FOR PRENATAL-DIAGNOSIS
Authors: WANDERS RJA RUITER JPN WIJBURG FA
Citation: Rja. Wanders et al., MITOCHONDRIAL OXIDATIVE-PHOSPHORYLATION IN DIGITONIN-PERMEABILIZED CHORIONIC VILLUS FIBROBLASTS - A NEW METHOD WITH POTENTIAL FOR PRENATAL-DIAGNOSIS, Journal of inherited metabolic disease, 17(3), 1994, pp. 304-306
LEBERS HEREDITARY OPTIC NEUROPATHY - CORRELATIONS BETWEEN MITOCHONDRIAL GENOTYPE AND VISUAL OUTCOME
Authors: OOSTRA RJ BOLHUIS PA WIJBURG FA ZORNENDE G BLEEKERWAGEMAKERS EM
Citation: Rj. Oostra et al., LEBERS HEREDITARY OPTIC NEUROPATHY - CORRELATIONS BETWEEN MITOCHONDRIAL GENOTYPE AND VISUAL OUTCOME, Journal of Medical Genetics, 31(4), 1994, pp. 280-286
RESPIRATORY-CHAIN FUNCTION IN LEBERS HEREDITARY OPTIC NEUROPATHY - LACK OF CORRELATION WITH CLINICAL-DISEASE
Authors: CORNELISSEN JC WANDERS RJA BOLHUIS PA BLEEKERWAGEMAKERS E OOSTRA RJ WIJBURG FA
Citation: Jc. Cornelissen et al., RESPIRATORY-CHAIN FUNCTION IN LEBERS HEREDITARY OPTIC NEUROPATHY - LACK OF CORRELATION WITH CLINICAL-DISEASE, Journal of inherited metabolic disease, 16(3), 1993, pp. 531-533
STUDIES ON MITOCHONDRIAL OXIDATIVE-PHOSPHORYLATION IN PERMEABILIZED HUMAN SKIN FIBROBLASTS - APPLICATION TO MITOCHONDRIAL ENCEPHALOMYOPATHIES
Authors: WANDERS RJA RUITER JPN WIJBURG FA
Citation: Rja. Wanders et al., STUDIES ON MITOCHONDRIAL OXIDATIVE-PHOSPHORYLATION IN PERMEABILIZED HUMAN SKIN FIBROBLASTS - APPLICATION TO MITOCHONDRIAL ENCEPHALOMYOPATHIES, Biochimica et biophysica acta, 1181(3), 1993, pp. 219-222
Risultati: 1-18 |