AAAAAA

   
Results: 1-25 | 26-31
Results: 1-25/31
MUTATIONS IN THE LIVER-GLYCOGEN PHOSPHORYLASE GENE (PYGL) UNDERLYING GLYCOGENOSIS TYPE-VI (HERS-DISEASE)
Authors: BURWINKEL B BAKKER HD HERSCHKOVITZ E MOSES SW SHIN YS KILIMANN MW
Citation: B. Burwinkel et al., MUTATIONS IN THE LIVER-GLYCOGEN PHOSPHORYLASE GENE (PYGL) UNDERLYING GLYCOGENOSIS TYPE-VI (HERS-DISEASE), American journal of human genetics, 62(4), 1998, pp. 785-791
FAMILIAL MITOCHONDRIAL-DNA DEPLETION IN LIVER - HAPLOTYPE ANALYSIS OFCANDIDATE GENES
Authors: SPELBRINK JN VANGALEN MJM ZWART R BAKKER HD ROVIO A JACOBS HT VANDENBOGERT C
Citation: Jn. Spelbrink et al., FAMILIAL MITOCHONDRIAL-DNA DEPLETION IN LIVER - HAPLOTYPE ANALYSIS OFCANDIDATE GENES, Human genetics, 102(3), 1998, pp. 327-331
MR-IMAGING AND PROTON SPECTROSCOPY IN 3-HYDROXY-3-METHYLGLUTARYL COENZYME-A LYASE DEFICIENCY
Authors: VANDERKNAAP MS BAKKER HD VALK J
Citation: Ms. Vanderknaap et al., MR-IMAGING AND PROTON SPECTROSCOPY IN 3-HYDROXY-3-METHYLGLUTARYL COENZYME-A LYASE DEFICIENCY, American journal of neuroradiology, 19(2), 1998, pp. 378-382
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
DIFFERENCES IN THE PHENOTYPE BETWEEN CHILDREN WITH FAMILIAL DEFECTIVEAPOLIPOPROTEIN B-100 AND FAMILIAL HYPERCHOLESTEROLEMIA
Authors: PIMSTONE SN DEFESCHE JC CLEE SM BAKKER HD HAYDEN MR KASTELEIN JJP
Citation: Sn. Pimstone et al., DIFFERENCES IN THE PHENOTYPE BETWEEN CHILDREN WITH FAMILIAL DEFECTIVEAPOLIPOPROTEIN B-100 AND FAMILIAL HYPERCHOLESTEROLEMIA, Arteriosclerosis, thrombosis, and vascular biology, 17(5), 1997, pp. 826-833
AUTOSOMAL GLYCOGENOSIS OF LIVER AND MUSCLE DUE TO PHOSPHORYLASE-KINASE DEFICIENCY IS CAUSED BY MUTATIONS IN THE PHOSPHORYLASE-KINASE BETA-SUBUNIT (PHKB)
Authors: BURWINKEL B MAICHELE AJ AAGENAES O BAKKER HD LERNER A SHIN YS STRACHAN JA KILIMANN MW
Citation: B. Burwinkel et al., AUTOSOMAL GLYCOGENOSIS OF LIVER AND MUSCLE DUE TO PHOSPHORYLASE-KINASE DEFICIENCY IS CAUSED BY MUTATIONS IN THE PHOSPHORYLASE-KINASE BETA-SUBUNIT (PHKB), Human molecular genetics, 6(7), 1997, pp. 1109-1115
DOES IMPAIRED GROWTH OF PKU PATIENTS CORRELATE WITH THE STRICTNESS OFDIETARY-TREATMENT
Authors: VANSPRONSEN FJ VERKERK PH VANHOUTEN M SMIT GPA VANDERMEER SB BAKKER HD SENGERS RCA
Citation: Fj. Vanspronsen et al., DOES IMPAIRED GROWTH OF PKU PATIENTS CORRELATE WITH THE STRICTNESS OFDIETARY-TREATMENT, Acta paediatrica, 86(8), 1997, pp. 816-818
MACROCEPHALY, FACIAL ABNORMALITIES, DISPROPORTIONATE TALL STATURE, AND MENTAL-RETARDATION - A SIB OBSERVATION
Authors: BAKKER HD HENNEKAM RCM
Citation: Hd. Bakker et Rcm. Hennekam, MACROCEPHALY, FACIAL ABNORMALITIES, DISPROPORTIONATE TALL STATURE, AND MENTAL-RETARDATION - A SIB OBSERVATION, American journal of medical genetics, 70(3), 1997, pp. 312-314
MUTATION HOTSPOTS IN THE PHKA2 GENE IN X-LINKED LIVER GLYCOGENOSIS DUE TO PHOSPHORYLASE-KINASE DEFICIENCY WITH ATYPICAL ACTIVITY IN BLOOD-CELLS (XLG2)
Authors: BURWINKEL B SHIN YS BAKKER HD DEUTSCH J LOZANO MJ MAIRE I KILIMANN MW
Citation: B. Burwinkel et al., MUTATION HOTSPOTS IN THE PHKA2 GENE IN X-LINKED LIVER GLYCOGENOSIS DUE TO PHOSPHORYLASE-KINASE DEFICIENCY WITH ATYPICAL ACTIVITY IN BLOOD-CELLS (XLG2), Human molecular genetics, 5(5), 1996, pp. 653-658
COMPOUND HETEROZYGOSITY FOR A KNOWN AND A NOVEL DEFECT IN THE LIPOPROTEIN-LIPASE GENE (ASP250-]ASN, SER251-]CYS) RESULTING IN LIPOPROTEIN-LIPASE (LPL) DEFICIENCY
Authors: BIJVOET SM WIEBUSCH H MA Y REYMER PWA BRUIN T BAKKER HD FUNKE H ASSMANN G HAYDEN MR KASTELEIN JJP
Citation: Sm. Bijvoet et al., COMPOUND HETEROZYGOSITY FOR A KNOWN AND A NOVEL DEFECT IN THE LIPOPROTEIN-LIPASE GENE (ASP250-]ASN, SER251-]CYS) RESULTING IN LIPOPROTEIN-LIPASE (LPL) DEFICIENCY, Netherlands journal of medicine, 49(5), 1996, pp. 189-195
A POINT MUTATION IN AN INVARIANT SPLICE DONOR SITE LEADS TO EXON SKIPPING IN 2 UNRELATED DUTCH PATIENTS WITH DIHYDROPYRIMIDINE DEHYDROGENASE-DEFICIENCY
Authors: VREKEN P VANKUILENBURG ABP MEINSMA R SMIT GPA BAKKER HD DEABREU RA VANGENNIP AH
Citation: P. Vreken et al., A POINT MUTATION IN AN INVARIANT SPLICE DONOR SITE LEADS TO EXON SKIPPING IN 2 UNRELATED DUTCH PATIENTS WITH DIHYDROPYRIMIDINE DEHYDROGENASE-DEFICIENCY, Journal of inherited metabolic disease, 19(5), 1996, pp. 645-654
THE EFFECT OF ENZYME THERAPY IN A PATIENT WITH GAUCHER DISEASE TYPE-III
Authors: BOSMAN DK HOLLAK CEM AERTS JMFG BAKKER HD
Citation: Dk. Bosman et al., THE EFFECT OF ENZYME THERAPY IN A PATIENT WITH GAUCHER DISEASE TYPE-III, Journal of inherited metabolic disease, 19(5), 1996, pp. 703-704
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
PROGRESSIVE GENERALIZED BRAIN ATROPHY AND INFANTILE SPASMS ASSOCIATEDWITH CYTOCHROME-C-OXIDASE DEFICIENCY
Authors: BAKKER HD VANDENBOGERT C DREWES JG BARTH PG SCHOLTE HR WANDERS RJA RUITENBEEK W
Citation: Hd. Bakker et al., PROGRESSIVE GENERALIZED BRAIN ATROPHY AND INFANTILE SPASMS ASSOCIATEDWITH CYTOCHROME-C-OXIDASE DEFICIENCY, Journal of inherited metabolic disease, 19(2), 1996, pp. 153-156
SHORT-TERM EFFICACY AND SAFETY OF PRAVASTATIN IN 72 CHILDREN WITH FAMILIAL HYPERCHOLESTEROLEMIA
Authors: KNIPSCHEER HC BOELEN CCA KASTELEIN JJP VANDIERMEN DE GROENEMEIJER BE VANDENENDE A BULLER HR BAKKER HD
Citation: Hc. Knipscheer et al., SHORT-TERM EFFICACY AND SAFETY OF PRAVASTATIN IN 72 CHILDREN WITH FAMILIAL HYPERCHOLESTEROLEMIA, Pediatric research, 39(5), 1996, pp. 867-871
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
XRIBOFLAVIN-RESPONSIVE COMPLEX-I DEFICIENCY
Authors: SCHOLTE HR BUSCH HFM BAKKER HD BOGAARD JM LUYTHOUWEN IEM KUYT LP
Citation: Hr. Scholte et al., XRIBOFLAVIN-RESPONSIVE COMPLEX-I DEFICIENCY, Biochimica et biophysica acta. Molecular basis of disease, 1271(1), 1995, pp. 75-83
DIAGNOSIS OF A NEW CASE OF TRIMETHYLAMINURIA USING DIRECT PROTON NMR-SPECTROSCOPY OF URINE
Authors: ABELING NGGM VANGENNIP AH BAKKER HD HEERSCHAP A ENGELKE U WEVERS RA
Citation: Nggm. Abeling et al., DIAGNOSIS OF A NEW CASE OF TRIMETHYLAMINURIA USING DIRECT PROTON NMR-SPECTROSCOPY OF URINE, Journal of inherited metabolic disease, 18(2), 1995, pp. 182-184
COMBINED DEFICIENCIES OF NADPH-DEPENDENT AND NADH-DEPENDENT DIHYDROPYRIMIDINE DEHYDROGENASES, A NEW FINDING IN A FAMILY WITH THYMINE-URACILURIA
Authors: VANGENNIP AH VANLENTHE H ABELING NGGM BAKKER HD VANKUILENBURG ABP
Citation: Ah. Vangennip et al., COMBINED DEFICIENCIES OF NADPH-DEPENDENT AND NADH-DEPENDENT DIHYDROPYRIMIDINE DEHYDROGENASES, A NEW FINDING IN A FAMILY WITH THYMINE-URACILURIA, Journal of inherited metabolic disease, 18(2), 1995, pp. 185-188
HOMOZYGOSITY FOR A MUTATION IN THE LIPOPROTEIN-LIPASE GENE (GLY(139)-]SER) CAUSES CHYLOMICRONEMIA IN A BOY OF SPANISH DESCENT
Authors: BIJVOET SM BRUIN T TUZGOL S BAKKER HD HAYDEN MR KASTELEIN JJP
Citation: Sm. Bijvoet et al., HOMOZYGOSITY FOR A MUTATION IN THE LIPOPROTEIN-LIPASE GENE (GLY(139)-]SER) CAUSES CHYLOMICRONEMIA IN A BOY OF SPANISH DESCENT, Human genetics, 93(3), 1994, pp. 339-343
NORMALIZATION OF SEVERE CRANIAL CT SCAN ABNORMALITIES AFTER BIOTIN INA CASE OF BIOTINIDASE DEFICIENCY
Authors: BAKKER HD WESTRA M OVERWEGPLANDSOEN WCG VANWAVEREN G SMITT JHS ABELING NGGM WANDERS RJA SCHUTGENS RBH VANGENNIP AH
Citation: Hd. Bakker et al., NORMALIZATION OF SEVERE CRANIAL CT SCAN ABNORMALITIES AFTER BIOTIN INA CASE OF BIOTINIDASE DEFICIENCY, European journal of pediatrics, 153(11), 1994, pp. 861-862
DIHYDROPYRIMIDINE DEHYDROGENASE-DEFICIENCY PRESENTING WITH PSYCHOMOTOR RETARDATION AND OCULAR ABNORMALITIES
Authors: BAKKER HD GOZALBO MER VANGENNIP AH
Citation: Hd. Bakker et al., DIHYDROPYRIMIDINE DEHYDROGENASE-DEFICIENCY PRESENTING WITH PSYCHOMOTOR RETARDATION AND OCULAR ABNORMALITIES, Journal of inherited metabolic disease, 17(5), 1994, pp. 640-641
FORMIMINOGLUTAMIC HYDANTOINPROPIONIC ACIDURIA IN 3 PATIENTS WITH DIFFERENT TUMORS/
Authors: VANGENNIP AH ABELING NGGM NIJENHUIS AA VOUTE PA BAKKER HD
Citation: Ah. Vangennip et al., FORMIMINOGLUTAMIC HYDANTOINPROPIONIC ACIDURIA IN 3 PATIENTS WITH DIFFERENT TUMORS/, Journal of inherited metabolic disease, 17(5), 1994, pp. 642-643
VITAMIN-RESPONSIVE COMPLEX-I DEFICIENCY IN A MYOPATHIC PATIENT WITH INCREASED ACTIVITY OF THE TERMINAL RESPIRATORY-CHAIN AND LACTIC-ACIDOSIS
Authors: BAKKER HD SCHOLTE HR JENESON JAL BUSCH HFM ABELING NGGM VANGENNIP AH
Citation: Hd. Bakker et al., VITAMIN-RESPONSIVE COMPLEX-I DEFICIENCY IN A MYOPATHIC PATIENT WITH INCREASED ACTIVITY OF THE TERMINAL RESPIRATORY-CHAIN AND LACTIC-ACIDOSIS, Journal of inherited metabolic disease, 17(2), 1994, pp. 196-204
CLINICAL AND BIOCHEMICAL FINDINGS IN 6 PATIENTS WITH PYRIMIDINE DEGRADATION DEFECTS
Authors: VANGENNIP AH ABELING NGGM STROOMER AEM VANLENTHE H BAKKER HD
Citation: Ah. Vangennip et al., CLINICAL AND BIOCHEMICAL FINDINGS IN 6 PATIENTS WITH PYRIMIDINE DEGRADATION DEFECTS, Journal of inherited metabolic disease, 17(1), 1994, pp. 130-132
Risultati: 1-25 | 26-31