AAAAAA
Results: 1-25/943
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
Authors:
VANCALCAR SC
HARDING CO
LYNE P
HOGAN K
BANERJEE R
SOLLINGER H
RIESELBACH RE
WOLFF JA
Citation: Sc. Vancalcar et al., RENAL-TRANSPLANTATION IN A PATIENT WITH METHYLMALONIC ACIDEMIA, Journal of inherited metabolic disease, 21(7), 1998, pp. 729-737
Authors:
YAP S
NAUGHTEN E
Citation: S. Yap et E. Naughten, HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY IN IRELAND - 25 YEARS EXPERIENCE OF A NEWBORN SCREENED AND TREATED POPULATION WITH REFERENCE TO CLINICAL OUTCOME AND BIOCHEMICAL CONTROL, Journal of inherited metabolic disease, 21(7), 1998, pp. 738-747
Authors:
HARPEY JP
HERON D
PRUDENT M
CHARPENTIER C
RUSTIN P
PONSOT G
CORMIERDAIRE V
Citation: Jp. Harpey et al., DIFFUSE LEUKODYSTROPHY IN AN INFANT WITH CYTOCHROME-C-OXIDASE DEFICIENCY, Journal of inherited metabolic disease, 21(7), 1998, pp. 748-752
Authors:
VERHOEVEN NM
JAKOBS C
TENBRINK HJ
WANDERS RJA
ROE CR
Citation: Nm. Verhoeven et al., STUDIES ON THE OXIDATION OF PHYTANIC ACID AND PRISTANIC ACID IN HUMANFIBROBLASTS BY ACYLCARNITINE ANALYSIS, Journal of inherited metabolic disease, 21(7), 1998, pp. 753-760
Authors:
HONDA M
TINT GS
SHEFER S
HONDA A
BATTA AK
XU G
CHEN TS
SALEN G
Citation: M. Honda et al., ACCURATE DETECTION OF SMITH-LEMLI-OPITZ-SYNDROME CARRIERS BY MEASUREMENT OF THE RATE OF REDUCTION OF THE ERGOSTEROL C-7 DOUBLE-BOND IN CULTURED SKIN FIBROBLASTS, Journal of inherited metabolic disease, 21(7), 1998, pp. 761-768
Authors:
SALEEM R
GOFIN R
BENNERIAH Z
BONEH A
Citation: R. Saleem et al., VARIABLES INFLUENCING PARENTAL PERCEPTION OF INHERITED METABOLIC DISEASES BEFORE AND AFTER GENETIC-COUNSELING, Journal of inherited metabolic disease, 21(7), 1998, pp. 769-780
Authors:
KUROSAWA K
IDA H
ETO Y
Citation: K. Kurosawa et al., PREVALENCE OF ARYLSULFATASE-A MUTATIONS IN 11 JAPANESE PATIENTS WITH METACHROMATIC LEUKODYSTROPHY - IDENTIFICATION OF 2 NOVEL MUTATIONS, Journal of inherited metabolic disease, 21(7), 1998, pp. 781-782
Authors:
VANKUILENBURG ABP
VREKEN P
BEEX LVAM
DEABREU RA
VANGENNIP AH
Citation: Abp. Vankuilenburg et al., SEVERE 5-FLUOROURACIL TOXICITY CAUSED BY REDUCED DIHYDROPYRIMIDINE DEHYDROGENASE-ACTIVITY DUE TO HETEROZYGOSITY FOR A G-]A POINT MUTATION (VOL 21, PG 280, 1998), Journal of inherited metabolic disease, 21(7), 1998, pp. 783-783
Authors:
RIUDOR E
Citation: E. Riudor, NEONATAL ONSET IN FATTY-ACID OXIDATION DISORDERS - HOW CAN WE MINIMIZE MORBIDITY AND MORTALITY, Journal of inherited metabolic disease, 21(6), 1998, pp. 619-623
Authors:
VREKEN P
VANKUILENBERG ABP
MEINSMA R
BEEMER FA
DURAN M
VANGENNIP AH
Citation: P. Vreken et al., DIHYDROPYRIMIDINE DEHYDROGENASE-DEFICIENCY - A NOVEL MUTATION AND EXPRESSION OF MISSENSE MUTATIONS IN ESCHERICHIA-COLI (VOL 21, PG 276, 1998), Journal of inherited metabolic disease, 21(6), 1998, pp. 623-623
Authors:
ABDENUR JE
CHAMOLES NA
GUINLE AE
SCHENONE AB
FUERTES ANJ
Citation: Je. Abdenur et al., DIAGNOSIS OF ISOVALERIC ACIDEMIA BY TANDEM MASS-SPECTROMETRY - FALSE-POSITIVE RESULT DUE TO PIVALOYLCARNITINE IN A NEWBORN SCREENING-PROGRAM, Journal of inherited metabolic disease, 21(6), 1998, pp. 624-630
VARIABLE CLINICAL PRESENTATION IN 3 PATIENTS WITH 3-METHYLGLUTACONYL-COENZYME-A HYDRATASE DEFICIENCY
Authors:
GIBSON KM
WAPPNER RS
JOOSTE S
ERASMUS E
MIENIE LJ
GERLO E
DESPRECHINS B
DEMEIRLEIR L
Citation: Km. Gibson et al., VARIABLE CLINICAL PRESENTATION IN 3 PATIENTS WITH 3-METHYLGLUTACONYL-COENZYME-A HYDRATASE DEFICIENCY, Journal of inherited metabolic disease, 21(6), 1998, pp. 631-638
Authors:
LARNAOUT A
MONGALGI MA
KAABACHI N
KHIARI D
DEBBABI A
MEBAZZA A
BENHAMIDA M
HENTATI F
Citation: A. Larnaout et al., METHYLMALONIC ACIDEMIA WITH BILATERAL GLOBUS-PALLIDUS INVOLVEMENT - ANEUROPATHOLOGICAL STUDY, Journal of inherited metabolic disease, 21(6), 1998, pp. 639-644
Authors:
VENTURA FV
RUITER JPN
IJLST L
DEALMEIDA IT
WANDERS RJA
Citation: Fv. Ventura et al., LACTIC-ACIDOSIS IN LONG-CHAIN FATTY-ACID BETA-OXIDATION DISORDERS, Journal of inherited metabolic disease, 21(6), 1998, pp. 645-654
Authors:
GORT L
CHABAS A
COLL MJ
Citation: L. Gort et al., HUNTER-DISEASE IN THE SPANISH POPULATION - MOLECULAR ANALYSIS IN 31 FAMILIES, Journal of inherited metabolic disease, 21(6), 1998, pp. 655-661
Authors:
SOVIK O
MANSSON JE
MONSEN ALB
JELLUM E
BERGE RK
Citation: O. Sovik et al., GENERALIZED PEROXISOMAL DISORDER IN MALE TWINS - FATTY-ACID COMPOSITION OF SERUM-LIPIDS AND RESPONSE TO N-3 FATTY-ACIDS, Journal of inherited metabolic disease, 21(6), 1998, pp. 662-670
Authors:
ALSHAMSAN L
ALESSA M
ALMUTAIR A
ALASHWAL A
SAKATI N
OZAND PT
Citation: L. Alshamsan et al., HYPERINSULINISM AND HYPERAMMONEMIA, Journal of inherited metabolic disease, 21(6), 1998, pp. 671-673
Authors:
RIUDOR E
ARRANZ JA
ANGUERA R
SALCEDO S
ROIG M
DELTORO M
BAHIMA C
MARTINEZ G
RIBES A
VIANEYSABAN C
SENTIS M
Citation: E. Riudor et al., NEONATAL MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY PRESENTING WITH VERY HIGH CREATINE-KINASE LEVELS, Journal of inherited metabolic disease, 21(6), 1998, pp. 673-674
Authors:
DIROCCO M
BUONCOMPAGNI A
GATTON M
PICCO P
VIGNOLA S
BORRONE C
Citation: M. Dirocco et al., COMPLICATIONS OF LYSINURIC PROTEIN INTOLERANCE MUST BE TREATED WITH IMMUNOSUPPRESSIVE DRUGS, Journal of inherited metabolic disease, 21(6), 1998, pp. 675-676
Authors:
COWLEY DM
BOWLING FG
MCGILL JJ
VANDONGEN J
MORRIS D
Citation: Dm. Cowley et al., ADULT-ONSET ARGINASE DEFICIENCY, Journal of inherited metabolic disease, 21(6), 1998, pp. 677-678
Authors:
OLCAY L
GUMRUK F
BODUROGLU K
COSKUN T
TUNCBILEK E
Citation: L. Olcay et al., ANEMIA AND THROMBOCYTOPENIA DUE TO HEMOPHAGOCYTOSIS IN A 7-MONTH-OLD BOY WITH GALACTOSIALIDOSIS, Journal of inherited metabolic disease, 21(6), 1998, pp. 679-680
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
Authors:
HOLTMANN MH
GALLE PR
STREMMEL W
MAYATEPEK E
Citation: Mh. Holtmann et al., 3-METHYLGLUTACONIC ACIDURIA ASSOCIATED WITH HEPATOSPLENOMEGALY, MACROCYTIC ANEMIA, FEVER EPISODES, RECURRENT INFECTIONS, CERVICAL LYMPHADENOPATHY AND PROGRESSIVE DECREASE OF PHYSICAL PERFORMANCE, Journal of inherited metabolic disease, 21(6), 1998, pp. 683-685
Authors:
CHAKRAPANI A
HEPTINSTALL L
WALTER J
Citation: A. Chakrapani et al., A FAMILY WITH LEIGH-SYNDROME CAUSED BY THE RARER T8993C MUTATION, Journal of inherited metabolic disease, 21(6), 1998, pp. 685-686