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Results: 101-125/943
Authors:
MAYATEPEK E
WANDERS RJA
Citation: E. Mayatepek et Rja. Wanders, DEFECTIVE OXIDATION OF HYDROXYEICOSATETRAENOIC ACIDS IN THE LIVER OF PATIENTS WITH ZELLWEGER-SYNDROME, Journal of inherited metabolic disease, 21(3), 1998, pp. 295-297
Authors:
VANGRUNSVEN EG
VANBERKEL E
LEMONDE H
CLAYTON PT
WANDERS RJA
Citation: Eg. Vangrunsven et al., BIFUNCTIONAL PROTEIN-DEFICIENCY - COMPLEMENTATION WITHIN THE SAME GROUP SUGGESTING DIFFERENTIAL ENZYME DEFECTS AND CLUES TO THE UNDERLYING BASIS, Journal of inherited metabolic disease, 21(3), 1998, pp. 298-301
Authors:
WANDERS RJA
DENIS S
VANBERKEL E
WOUTERS F
WIRTZ KWA
SEEDORF U
Citation: Rja. Wanders et al., IDENTIFICATION OF THE NEWLY DISCOVERED 58 KDA PEROXISOMAL THIOLASE SCPX AS THE MAIN THIOLASE INVOLVED IN BOTH PRISTANIC ACID AND TRIHYDROXYCHOLESTANOIC ACID OXIDATION - IMPLICATIONS FOR PEROXISOMAL BETA-OXIDATION DISORDERS, Journal of inherited metabolic disease, 21(3), 1998, pp. 302-305
Authors:
BRITES P
MOTLEY A
HOGENHOUT E
HETTEMA E
WIJBURG F
HEIJMANS HSA
TABAK HF
DISTEL B
WANDERS RJA
Citation: P. Brites et al., MOLECULAR-BASIS OF RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE-I - HIGH-FREQUENCY OF THE LEU-292 STOP MUTATION IN 38 PATIENTS, Journal of inherited metabolic disease, 21(3), 1998, pp. 306-308
Authors:
WANDERS RJA
ROMEIJN GJ
Citation: Rja. Wanders et Gj. Romeijn, CHOLESTEROL-BIOSYNTHESIS, PEROXISOMES AND PEROXISOMAL DISORDERS - MEVALONATE KINASE IS NOT ONLY DEFICIENT IN ZELLWEGER-SYNDROME BUT ALSO INRHIZOMELIC CHONDRODYSPLASIA PUNCTATA, Journal of inherited metabolic disease, 21(3), 1998, pp. 309-312
Authors:
SCHLUFF P
FLOTTRAHMEL B
GIESELMANN V
ZIMMER P
DAS A
ULLRICH K
Citation: P. Schluff et al., LOCALIZATION OF RECEPTORS FOR ENDOCYTOSIS OF LYSOSOMAL-ENZYMES ON DIFFERENT BRAIN-CELLS, Journal of inherited metabolic disease, 21(3), 1998, pp. 313-317
Authors:
ROMANO V
Citation: V. Romano, PHENYLKETONURIA - FROM BIOCHEMISTRY TO TREATMENT - PREFACE, Journal of inherited metabolic disease, 21, 1998, pp. 1-1
Citation: PHENYLKETONURIA - FROM BIOCHEMISTRY TO TREATMENT - ABSTRACTS, Journal of inherited metabolic disease, 21, 1998, pp. 4-19
Authors:
FRANCOIS B
PONZONE A
OZALP I
LEVY H
KAUFMAN E
ROMANO V
PUGLISIALLEGRA S
MCDONALD JD
Citation: B. Francois et al., PHENYLKETONURIA - FROM BIOCHEMISTRY TO TREATMENT - DISCUSSION, Journal of inherited metabolic disease, 21, 1998, pp. 20-52
Authors:
GRUNEWALD S
HINRICHS F
WENDEL U
Citation: S. Grunewald et al., PREGNANCY IN A WOMAN WITH MAPLE-SYRUP-URINE-DISEASE, Journal of inherited metabolic disease, 21(2), 1998, pp. 89-94
Authors:
DIONISIVICI C
DEFELICE L
ELHACHEM M
BOTTERO S
RIZZO C
PAOLONI A
GOFFREDO B
SABETTA G
CANIGLIA M
Citation: C. Dionisivici et al., INTRAVENOUS IMMUNE GLOBULIN IN LYSINURIC PROTEIN INTOLERANCE, Journal of inherited metabolic disease, 21(2), 1998, pp. 95-102
Authors:
LUKKARINEN M
NANTOSALONEN K
RUUSKANEN O
LAUTEALA T
SAKO S
NUUTINEN M
SIMELL O
Citation: M. Lukkarinen et al., VARICELLA AND VARICELLA IMMUNITY IN PATIENTS WITH LYSINURIC PROTEIN INTOLERANCE, Journal of inherited metabolic disease, 21(2), 1998, pp. 103-111
Authors:
KRISTIANSSON B
STIBLER H
CONRADI N
ERIKSSON BO
RYD W
Citation: B. Kristiansson et al., THE HEART AND PERICARDIAL-EFFUSIONS IN CDGS-I (CARBOHYDRATE-DEFICIENTGLYCOPROTEIN SYNDROME TYPE-I), Journal of inherited metabolic disease, 21(2), 1998, pp. 112-124
Authors:
GRIFFITHS P
CAMPBELL R
ROBINSON P
Citation: P. Griffiths et al., EXECUTIVE FUNCTION IN TREATED PHENYLKETONURIA AS MEASURED BY THE ONE-BACK AND 2-BACK VERSIONS OF THE CONTINUOUS PERFORMANCE-TEST, Journal of inherited metabolic disease, 21(2), 1998, pp. 125-135
Authors:
LEE PJ
HARRISON EL
JONES MG
CHALMERS RA
LEONARD JV
WHIPP BJ
Citation: Pj. Lee et al., IMPROVEMENT IN EXERCISE TOLERANCE IN ISOVALERIC ACIDEMIA WITH L-CARNITINE THERAPY, Journal of inherited metabolic disease, 21(2), 1998, pp. 136-140
Authors:
PARVARI R
SHEN J
HERSHKOVITZ E
CHEN YT
MOSES SW
Citation: R. Parvari et al., 2 NEW MUTATIONS IN THE 3'-CODING REGION OF THE GLYCOGEN DEBRANCHING ENZYME IN A GLYCOGEN-STORAGE-DISEASE TYPE IIIA ASHKENAZI JEWISH PATIENT, Journal of inherited metabolic disease, 21(2), 1998, pp. 141-148
Authors:
SEQUEIRA JSS
VELLODI A
VANIER MT
CLAYTON PT
Citation: Jss. Sequeira et al., NIEMANN-PICK DISEASE TYPE-C AND DEFECTIVE PEROXISOMAL BETA-OXIDATION OF BRANCHED-CHAIN SUBSTRATES, Journal of inherited metabolic disease, 21(2), 1998, pp. 149-154
Authors:
BRUNO C
MINETTI C
TANG Y
MAGALHAES PJ
SANTORELLI FM
SHANSKE S
BADO M
CORDONE G
GATTI R
DIMAURO S
Citation: C. Bruno et al., PRIMARY ADRENAL INSUFFICIENCY IN A CHILD WITH A MITOCHONDRIAL-DNA DELETION, Journal of inherited metabolic disease, 21(2), 1998, pp. 155-161
Authors:
OSAKA H
SEKIGUCHI H
INOUE K
IKUTA K
SAKAKIHARA Y
OKA A
ONISHI H
MIYAKAWA T
SUZUKI K
KIMURA S
KOSAKA K
MATSUYAMA S
Citation: H. Osaka et al., A NOVEL MUTATION FOUND IN AN ADRENOLEUKODYSTROPHY PATIENT WHO UNDERWENT BONE-MARROW TRANSPLANTATION, Journal of inherited metabolic disease, 21(2), 1998, pp. 162-166
Authors:
BARONE R
CARCHON H
JANSEN E
PAVONE L
FIUMARA A
BOSSHARD NU
GITZELMANN R
JAEKEN J
Citation: R. Barone et al., LYSOSOMAL-ENZYME ACTIVITIES IN SERUM AND LEUKOCYTES FROM PATIENTS WITH CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE IA (PHOSPHOMANNOMUTASE DEFICIENCY), Journal of inherited metabolic disease, 21(2), 1998, pp. 167-172
Authors:
GUCUYENER K
SEYRANTEPE V
TOPALOGLU H
OZGUC M
Citation: K. Gucuyener et al., MITOCHONDRIAL DELETION IN A BOY WITH GROWTH-HORMONE DEFICIENCY MIMICKING CEREBRAL-PALSY, Journal of inherited metabolic disease, 21(2), 1998, pp. 173-174
Authors:
YAP S
MONAVARI AA
THORNTON P
NAUGHTEN E
Citation: S. Yap et al., LATE-INFANTILE 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY PRESENTINGAS GLOBAL DEVELOPMENTAL DELAY, Journal of inherited metabolic disease, 21(2), 1998, pp. 175-176
Authors:
KOGA Y
IWANAGA T
YOSHIDA I
YOSHINO M
KANEKO S
KATO H
Citation: Y. Koga et al., MAPLE-SYRUP-URINE-DISEASE - NUTRITIONAL MANAGEMENT BY INTRAVENOUS HYPERALIMENTATION AND UNEVENTFUL COURSE AFTER SURGICAL REPAIR OF DISLOCATION OF THE HIP, Journal of inherited metabolic disease, 21(2), 1998, pp. 177-178
Authors:
DHAUNSI GS
RAHBEENI Z
ALESSA M
OZAND PT
Citation: Gs. Dhaunsi et al., IMPAIRED DNA-SYNTHESIS IN DERMAL FIBROBLASTS FROM ZELLWEGER-SYNDROME PATIENTS, Journal of inherited metabolic disease, 21(2), 1998, pp. 179-180
Authors:
WEGLAGE J
WIEDERMANN D
MOLLER H
ULLRICH K
Citation: J. Weglage et al., PATHOGENESIS OF DIFFERENT CLINICAL OUTCOMES IN SPITE OF IDENTICAL GENOTYPES AND COMPARABLE BLOOD PHENYLALANINE CONCENTRATIONS IN PHENYLKETONURICS, Journal of inherited metabolic disease, 21(2), 1998, pp. 181-182