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SPECTRUM OF MUTATIONS IN THE FUMARYLACETOACETATE HYDROLASE GENE OF TYROSINEMIA TYPE-1 PATIENTS IN NORTHWESTERN EUROPE AND MEDITERRANEAN COUNTRIES
Authors: BERGMAN AJIW VANDENBERG IET BRINK W POLLTHE BT PLOOSVANAMSTEL JK BERGER R
Citation: Ajiw. Bergman et al., SPECTRUM OF MUTATIONS IN THE FUMARYLACETOACETATE HYDROLASE GENE OF TYROSINEMIA TYPE-1 PATIENTS IN NORTHWESTERN EUROPE AND MEDITERRANEAN COUNTRIES, Human mutation, 12(1), 1998, pp. 19-26
HOMOZYGOSITY FOR THE F119L MUTATION IN THE PMM2 GENE IN AN ADULT WITHCDG SYNDROME TYPE IA
Authors: VANTINTELEN P MATTHIJS G BRAAM W CASSIMAN JJ DURAN M POLLTHE BT
Citation: P. Vantintelen et al., HOMOZYGOSITY FOR THE F119L MUTATION IN THE PMM2 GENE IN AN ADULT WITHCDG SYNDROME TYPE IA, European journal of human genetics, 6, 1998, pp. 1097-1097
PEROXISOMAL DISORDERS
Authors: POLLTHE BT DEKONING TJ DORLAND L DURAN M
Citation: Bt. Pollthe et al., PEROXISOMAL DISORDERS, Neuroscience research communications, 22(2), 1998, pp. 63-71
CLINICAL APPROACH TO INHERITED PEROXISOMAL DISORDERS - A SERIES OF 27PATIENTS
Authors: BAUMGARTNER MR POLLTHE BT VERHOEVEN NM JAKOBS C ESPEEL M ROELS F RABIER D LEVADE T ROLLAND MO MARTINEZ M WANDERS RJA SAUDUBRAY JM
Citation: Mr. Baumgartner et al., CLINICAL APPROACH TO INHERITED PEROXISOMAL DISORDERS - A SERIES OF 27PATIENTS, Annals of neurology, 44(5), 1998, pp. 720-730
BENEFICIAL-EFFECTS OF L-SERINE AND GLYCINE IN THE MANAGEMENT OF SEIZURES IN 3-PHOSPHOGLYCERATE DEHYDROGENASE-DEFICIENCY
Authors: DEKONING TJ DURAN M DORLAND L GOOSKENS R VANSCHAFTINGEN E JAEKEN J BLAU N BERGER R POLLTHE BT
Citation: Tj. Dekoning et al., BENEFICIAL-EFFECTS OF L-SERINE AND GLYCINE IN THE MANAGEMENT OF SEIZURES IN 3-PHOSPHOGLYCERATE DEHYDROGENASE-DEFICIENCY, Annals of neurology, 44(2), 1998, pp. 261-265
ADENYLOSUCCINASE DEFICIENCY WITH NEONATAL ONSET SEVERE EPILEPTIC SEIZURES AND SUDDEN-DEATH
Authors: VANDENBERGH FAJTM BOSSCHAART AN HAGEMAN G DURAN M POLLTHE BT
Citation: Fajtm. Vandenbergh et al., ADENYLOSUCCINASE DEFICIENCY WITH NEONATAL ONSET SEVERE EPILEPTIC SEIZURES AND SUDDEN-DEATH, Neuropediatrics, 29(1), 1998, pp. 51-53
THE METABOLISM OF PHYTANIC ACID AND PRISTANIC ACID IN MAN - A REVIEW
Authors: VERHOEVEN NM WANDERS RJA POLLTHE BT SAUDUBRAY JM JAKOBS C
Citation: Nm. Verhoeven et al., THE METABOLISM OF PHYTANIC ACID AND PRISTANIC ACID IN MAN - A REVIEW, Journal of inherited metabolic disease, 21(7), 1998, pp. 697-728
RECURRENT NONIMMUNE HYDROPS-FETALIS ASSOCIATED WITH CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME
Authors: DEKONING TJ TOET M DORLAND L DEVRIES LS VANDENBERG IET DURAN M POLLTHE BT
Citation: Tj. Dekoning et al., RECURRENT NONIMMUNE HYDROPS-FETALIS ASSOCIATED WITH CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, Journal of inherited metabolic disease, 21(6), 1998, pp. 681-682
THE EFFECT OF FASTING, LONG-CHAIN TRIGLYCERIDE LOAD AND CARNITINE LOAD ON PLASMA LONG-CHAIN ACYLCARNITINE LEVELS IN MITOCHONDRIAL VERY LONG-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY
Authors: COSTA CG DORLAND L DEALMEIDA IT JAKOBS C DURAN M POLLTHE BT
Citation: Cg. Costa et al., THE EFFECT OF FASTING, LONG-CHAIN TRIGLYCERIDE LOAD AND CARNITINE LOAD ON PLASMA LONG-CHAIN ACYLCARNITINE LEVELS IN MITOCHONDRIAL VERY LONG-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY, Journal of inherited metabolic disease, 21(4), 1998, pp. 391-399
ALTERATIONS OF HEPATIC PEROXISOMES IN TYROSINEMIA TYPE-I - RETURN TO FETAL TYPE
Authors: KERCKAERT I DEKONING TJ POLLTHE BT ROELS F
Citation: I. Kerckaert et al., ALTERATIONS OF HEPATIC PEROXISOMES IN TYROSINEMIA TYPE-I - RETURN TO FETAL TYPE, Journal of inherited metabolic disease, 21(3), 1998, pp. 186-190
UNUSUAL ENZYME FINDINGS IN 5 PATIENTS WITH METABOLIC PROFILES SUGGESTIVE OF SUCCINIC SEMIALDEHYDE DEHYDROGENASE-DEFICIENCY (4-HYDROXYBUTYRIC ACIDURIA)
Authors: GIBSON KM SWEETMAN L KOZICH V PIJACKOVA A TSCHARRE A CORTEZ A EYSKENS F JAKOBS C DURAN M POLLTHE BT
Citation: Km. Gibson et al., UNUSUAL ENZYME FINDINGS IN 5 PATIENTS WITH METABOLIC PROFILES SUGGESTIVE OF SUCCINIC SEMIALDEHYDE DEHYDROGENASE-DEFICIENCY (4-HYDROXYBUTYRIC ACIDURIA), Journal of inherited metabolic disease, 21(3), 1998, pp. 255-261
CLINICAL HETEROGENEITY AND NOVEL MUTATIONS IN THE GLYCEROL KINASE GENE IN 3 FAMILIES WITH ISOLATED GLYCEROL KINASE-DEFICIENCY
Authors: SJARIF DR SINKE RJ DURAN M BEEMER FA KLEIJER WJ VANAMSTEL JKP POLLTHE BT
Citation: Dr. Sjarif et al., CLINICAL HETEROGENEITY AND NOVEL MUTATIONS IN THE GLYCEROL KINASE GENE IN 3 FAMILIES WITH ISOLATED GLYCEROL KINASE-DEFICIENCY, Journal of Medical Genetics, 35(8), 1998, pp. 650-656
COEXISTENCE OF GAUCHER-DISEASE TYPE-1 AND JOUBERT-SYNDROME
Authors: VANROYENKERKHOF A POLLTHE BT KLEIJER W VANDIGGELEN OP AERTS JMFG HOPWOOD JJ BEEMER FA
Citation: A. Vanroyenkerkhof et al., COEXISTENCE OF GAUCHER-DISEASE TYPE-1 AND JOUBERT-SYNDROME, Journal of Medical Genetics, 35(11), 1998, pp. 965-966
SIMULTANEOUS ANALYSIS OF PLASMA-FREE FATTY-ACIDS AND THEIR 3-HYDROXY ANALOGS IN FATTY-ACID BETA-OXIDATION DISORDERS
Authors: COSTA CG DORLAND L HOLWERDA U DEALMEIDA IT POLLTHE BT JAKOBS C DURAN M
Citation: Cg. Costa et al., SIMULTANEOUS ANALYSIS OF PLASMA-FREE FATTY-ACIDS AND THEIR 3-HYDROXY ANALOGS IN FATTY-ACID BETA-OXIDATION DISORDERS, Clinical chemistry, 44(3), 1998, pp. 463-471
HEMATOPOIETIC AND IMMUNOLOGICAL ABNORMALITIES IN 2 PATIENTS WITH LYSINURIC PROTEIN INTOLERANCE
Authors: VANDENBOS C DEKONING TJ BIERINGS MB POLLTHE BT ZEGERS BJM RIJKERS GT REVESZ T
Citation: C. Vandenbos et al., HEMATOPOIETIC AND IMMUNOLOGICAL ABNORMALITIES IN 2 PATIENTS WITH LYSINURIC PROTEIN INTOLERANCE, British Journal of Haematology, 102(1), 1998, pp. 314-314
A NOVEL DISORDER OF N-GLYCOSYLATION DUE TO PHOSPHOMANNOSE ISOMERASE DEFICIENCY
Authors: DEKONING TJ DORLAND L VANDIGGELEN OP BOONMAN AMC DEJONG GJ VANNOORT WL DESCHRYVER J DURAN M VANDENBERG IET GERWIG GJ BERGER R POLLTHE BT
Citation: Tj. Dekoning et al., A NOVEL DISORDER OF N-GLYCOSYLATION DUE TO PHOSPHOMANNOSE ISOMERASE DEFICIENCY, Biochemical and biophysical research communications, 245(1), 1998, pp. 38-42
A NONSENSE MUTATION IN THE EXON-2 OF THE 3-HYDROXY-3-METHYLGLUTARYL COENZYME-A LYASE (HL) GENE PRODUCING 3 MATURE MESSENGER-RNAS IS THE MAIN CAUSE OF 3-HYDROXY-3-METHYLGLUTARIC ACIDURIA IN EUROPEAN MEDITERRANEAN PATIENTS
Authors: CASALE CH CASALS N PIE J ZAPATER N PEREZCERDA C MERINERO B MARTINEZPARDO M GARCIAPENAS JJ GARCIAGONZALEZ JM LAMA R POLLTHE BT SMEITINK JAM WANDERS RJA UGARTE M HEGARDT FG
Citation: Ch. Casale et al., A NONSENSE MUTATION IN THE EXON-2 OF THE 3-HYDROXY-3-METHYLGLUTARYL COENZYME-A LYASE (HL) GENE PRODUCING 3 MATURE MESSENGER-RNAS IS THE MAIN CAUSE OF 3-HYDROXY-3-METHYLGLUTARIC ACIDURIA IN EUROPEAN MEDITERRANEAN PATIENTS, Archives of biochemistry and biophysics, 349(1), 1998, pp. 129-137
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
IN-VIVO STABLE-ISOTOPE STUDIES IN 3 PATIENTS AFFECTED WITH MITOCHONDRIAL FATTY-ACID OXIDATION DISORDERS - LIMITED DIAGNOSTIC USE OF 1-C-13 FATTY-ACID BREATH TEST USING BOLUS TECHNIQUE
Authors: JAKOBS C KNEER J MARTIN D BOULLOCHE J BRIVET M POLLTHE BT SAUDUBRAY JM
Citation: C. Jakobs et al., IN-VIVO STABLE-ISOTOPE STUDIES IN 3 PATIENTS AFFECTED WITH MITOCHONDRIAL FATTY-ACID OXIDATION DISORDERS - LIMITED DIAGNOSTIC USE OF 1-C-13 FATTY-ACID BREATH TEST USING BOLUS TECHNIQUE, European journal of pediatrics, 156, 1997, pp. 78-82
ASYMPTOMATIC AND LATE-ONSET ORNITHINE TRANSCARBAMYLASE DEFICIENCY CAUSED BY A A208T MUTATION - CLINICAL, BIOCHEMICAL AND DNA ANALYSES IN A 4-GENERATION FAMILY
Authors: AUSEMS MGEM BAKKER E BERGER R DURAN M VANDIGGELEN OP KEULEMANS JLM DEVALK HW KNEPPERS ALJ DORLAND L ESKES PF BEEMER FA POLLTHE BT SMEITINK JAM
Citation: Mgem. Ausems et al., ASYMPTOMATIC AND LATE-ONSET ORNITHINE TRANSCARBAMYLASE DEFICIENCY CAUSED BY A A208T MUTATION - CLINICAL, BIOCHEMICAL AND DNA ANALYSES IN A 4-GENERATION FAMILY, American journal of medical genetics, 68(2), 1997, pp. 236-239
ABNORMAL GLUTATHIONE CONJUGATION IN PATIENTS WITH TYROSINEMIA TYPE-I
Authors: MULDERS TMT BERGMAN DJW POLLTHE BT SMIT GPA BREIMER DD MULDER GJ DURAN M SMEITINK JAM
Citation: Tmt. Mulders et al., ABNORMAL GLUTATHIONE CONJUGATION IN PATIENTS WITH TYROSINEMIA TYPE-I, Journal of inherited metabolic disease, 20(4), 1997, pp. 473-485
COMPOUND HETEROZYGOSITY IN THE GLUTARYL-COA DEHYDROGENASE GENE WITH R227P MUTATION IN ONE ALLELE IS ASSOCIATED WITH NO OR VERY-LOW FREE GLUTARATE EXCRETION
Authors: CHRISTENSEN E RIBES A BUSQUETS C PINEDA M DURAN M POLLTHE BT GREENBERG CR LEFFERS H SCHWARTZ M
Citation: E. Christensen et al., COMPOUND HETEROZYGOSITY IN THE GLUTARYL-COA DEHYDROGENASE GENE WITH R227P MUTATION IN ONE ALLELE IS ASSOCIATED WITH NO OR VERY-LOW FREE GLUTARATE EXCRETION, Journal of inherited metabolic disease, 20(3), 1997, pp. 383-386
PHOSPHOMANNOMUTASE DEFICIENCY IS THE MAIN CAUSE OF CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME WITH TYPE-I ISOELECTROFOCUSING PATTERN OF SERUM SIALOTRANSFERRINS
Authors: JAEKEN J ARTIGAS J BARONE R FIUMARA A DEKONING TJ POLLTHE BT DERIJKVANANDEL JF HOFFMANN GF ASSMANN B MAYATEPEK E PINEDA M VILASECA MA SAUDUBRAY JM SCHLUTER B WEVERS R VANSCHAFTINGEN E
Citation: J. Jaeken et al., PHOSPHOMANNOMUTASE DEFICIENCY IS THE MAIN CAUSE OF CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME WITH TYPE-I ISOELECTROFOCUSING PATTERN OF SERUM SIALOTRANSFERRINS, Journal of inherited metabolic disease, 20(3), 1997, pp. 447-449
MUTATION ANALYSIS OF THE PYRUVATE-DEHYDROGENASE E(1)ALPHA GENE IN 8 PATIENTS WITH A PYRUVATE-DEHYDROGENASE COMPLEX DEFICIENCY
Authors: LISSENS W DEMEIRLEIR L SENECA S BENELLI C MARSAC C POLLTHE BT BRIONES P RUITENBEEK W VANDIGGELEN O CHAIGNE D RAMAEKERS V LIEBAERS I
Citation: W. Lissens et al., MUTATION ANALYSIS OF THE PYRUVATE-DEHYDROGENASE E(1)ALPHA GENE IN 8 PATIENTS WITH A PYRUVATE-DEHYDROGENASE COMPLEX DEFICIENCY, Human mutation, 7(1), 1996, pp. 46-51
NON-RHIZOMELIC AND RHIZOMELIC CHONDRODYSPLASIA PUNCTATA WITHIN A SINGLE COMPLEMENTATION GROUP
Authors: MOTLEY AM TABAK HF SMEITINK JAM POLLTHE BT BARTH PG WANDERS RJA
Citation: Am. Motley et al., NON-RHIZOMELIC AND RHIZOMELIC CHONDRODYSPLASIA PUNCTATA WITHIN A SINGLE COMPLEMENTATION GROUP, Biochimica et biophysica acta. Molecular basis of disease, 1315(3), 1996, pp. 153-158
Risultati: 1-25 | 26-50 | 51-52