AAAAAA
Results: 51-75/943
Authors:
LEUZZI V
RINALDUZZI S
CHIAROTTI F
GARZIA P
TRASIMENI G
ACCORNERO N
Citation: V. Leuzzi et al., SUBCLINICAL VISUAL IMPAIRMENT IN PHENYLKETONURIA - A NEUROPHYSIOLOGICAL STUDY (VEP-P) WITH CLINICAL, BIOCHEMICAL, AND NEURORADIOLOGICAL (MRI) CORRELATIONS, Journal of inherited metabolic disease, 21(4), 1998, pp. 351-364
Authors:
GULDBERG P
HENRIKSEN KF
LOU HC
GUTTLER F
Citation: P. Guldberg et al., ABERRANT PHENYLALANINE METABOLISM IN PHENYLKETONURIA HETEROZYGOTES, Journal of inherited metabolic disease, 21(4), 1998, pp. 365-372
Authors:
POGE AP
BAUMANN K
MULLER E
LEICHSENRING M
SCHMIDT H
BREMER HJ
Citation: Ap. Poge et al., LONG-CHAIN POLYUNSATURATED FATTY-ACIDS IN PLASMA AND ERYTHROCYTE-MEMBRANE LIPIDS OF CHILDREN WITH PHENYLKETONURIA AFTER CONTROLLED LINOLEIC-ACID INTAKE, Journal of inherited metabolic disease, 21(4), 1998, pp. 373-381
Authors:
GREGG AR
WARMAN AW
THORBURN DR
OBRIEN WE
Citation: Ar. Gregg et al., COMBINED MALONIC AND METHYLMALONIC ACIDURIA WITH NORMAL MALONYL-COENZYME-A DECARBOXYLASE ACTIVITY - A CASE SUPPORTING MULTIPLE ETIOLOGIES, Journal of inherited metabolic disease, 21(4), 1998, pp. 382-390
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
Authors:
KIRCHES EJF
WINKLER K
WARICHKIRCHES M
SZIBOR R
WIEN F
KUNZ WS
VONBOSSANYI P
BAJAJ PK
DIETZMANN K
Citation: Ejf. Kirches et al., MTDNA DEPLETION AND IMPAIRMENT OF MITOCHONDRIAL-FUNCTION IN A CASE OFA MULTISYSTEM DISORDER INCLUDING SEVERE MYOPATHY, Journal of inherited metabolic disease, 21(4), 1998, pp. 400-408
Authors:
VENIZELOS N
VONDOBELN U
HAGENFELDT L
Citation: N. Venizelos et al., FATTY-ACID OXIDATION IN FIBROBLASTS FROM PATIENTS WITH DEFECTS IN BETA-OXIDATION AND IN THE RESPIRATORY-CHAIN, Journal of inherited metabolic disease, 21(4), 1998, pp. 409-415
Authors:
WEBER B
VANDEKAMP JJP
KLEIJER WJ
GUO XH
BLANCH L
VANDIGGELEN OP
WEVERS R
POORTHUIS BJHM
HOPWOOD JJ
Citation: B. Weber et al., IDENTIFICATION OF A COMMON MUTATION (R245H) IN SANFILIPPO-A PATIENTS FROM THE NETHERLANDS, Journal of inherited metabolic disease, 21(4), 1998, pp. 416-422
Authors:
TANG NLS
HUI J
LAW LK
TO KF
RUITER JPN
IJLST L
WANDERS RJA
HO CS
FOK TF
YUEN PMP
HJELM NM
Citation: Nls. Tang et al., PRIMARY PLASMALEMMAL CARNITINE TRANSPORTER DEFECT MANIFESTED WITH DICARBOXYLIC ACIDURIA AND IMPAIRED FATTY-ACID OXIDATION, Journal of inherited metabolic disease, 21(4), 1998, pp. 423-425
Authors:
LERMANSAGIE T
MESHULACH I
GUTMAN A
Citation: T. Lermansagie et al., TRANSIENT PRIMARY CARNITINE DEFICIENCY, Journal of inherited metabolic disease, 21(4), 1998, pp. 425-426
Authors:
MOORE SJ
HAITES NE
BROOM I
WHITE I
COLEMAN RJ
POURFARZAM M
MORRIS AAM
Citation: Sj. Moore et al., ACYLCARNITINE ANALYSIS IN THE INVESTIGATION OF MYOPATHY, Journal of inherited metabolic disease, 21(4), 1998, pp. 427-428
Authors:
MARQUES JS
Citation: Js. Marques, DILATED CARDIOMYOPATHY CAUSED BY PLASMA-MEMBRANE CARNITINE TRANSPORT DEFECT, Journal of inherited metabolic disease, 21(4), 1998, pp. 428-429
Authors:
MULLER G
BAUMGARTNER W
MORITZ A
SEWELL A
KUSTERMANNKUHN B
Citation: G. Muller et al., BIOCHEMICAL FINDINGS IN A BREEDING COLONY OF ALASKAN HUSKIES SUFFERING FROM GM(1)-GANGLIOSIDOSIS, Journal of inherited metabolic disease, 21(4), 1998, pp. 430-431
Authors:
KURE S
MAEDA T
FUKUSHIMA N
OHURA T
TAKAHASHI K
NISHIKAWA T
MATSUBARA Y
IZUMI T
NARISAWA K
Citation: S. Kure et al., A SUBTYPE OF PYRIDOXINE-DEPENDENT EPILEPSY WITH NORMAL CSF GLUTAMATE CONCENTRATION, Journal of inherited metabolic disease, 21(4), 1998, pp. 431-432
Authors:
BLAU N
THONY B
RENNEBERG A
ARNOLD LA
HYLAND K
Citation: N. Blau et al., DIHYDROPTERIDINE REDUCTASE DEFICIENCY LOCALIZED TO THE CENTRAL-NERVOUS-SYSTEM, Journal of inherited metabolic disease, 21(4), 1998, pp. 433-434
Authors:
BONIOLI E
DISTEFANO A
PERI V
CARUSO U
CERONE R
LAMANTEA E
TARONI F
BELLINI C
Citation: E. Bonioli et al., FUMARATE HYDRATASE DEFICIENCY, Journal of inherited metabolic disease, 21(4), 1998, pp. 435-436
Authors:
ARTAN R
VANDIGGELEN OP
HUIJMANS JGM
Citation: R. Artan et al., GLYCOGEN-STORAGE-DISEASE TYPE-III WITH DIAGNOSIS COMPLICATED BY GLUTEN-SENSITIVE ENTEROPATHY, Journal of inherited metabolic disease, 21(4), 1998, pp. 437-438
Authors:
SHOJI Y
TAKAHASHI T
SATO W
SHOJI Y
TAKADA G
Citation: Y. Shoji et al., ACUTE LIFE-THREATENING EVENT WITH RHABDOMYOLYSIS AFTER STARTING ON HIGH-DOSE PYRIDOXINE THERAPY IN AN INFANT WITH HOMOCYSTINURIA, Journal of inherited metabolic disease, 21(4), 1998, pp. 439-440
Authors:
SEWELL AC
HERWIG J
WIEGRATZ I
LEHNERT W
NIEDERHOFF H
SONG XQ
KONDO N
FUKAO T
Citation: Ac. Sewell et al., MITOCHONDRIAL ACETOACETYL-COA THIOLASE (BETA-KETOTHIOLASE) DEFICIENCYAND PREGNANCY, Journal of inherited metabolic disease, 21(4), 1998, pp. 441-442
Authors:
ALESSA M
RASHED M
OZAND PT
Citation: M. Alessa et al., 3-HYDROXY-3-METHYLGLUTARYL-COA LYASE DEFICIENCY IN A BOY WITH VATER ASSOCIATION, Journal of inherited metabolic disease, 21(4), 1998, pp. 443-444
Authors:
HUNER G
PODSKARBI T
SCHUTZ M
BAYKAL T
SARBAT G
SHIN YS
DEMIRKOL M
Citation: G. Huner et al., MOLECULAR ASPECTS OF GLYCOGEN-STORAGE-DISEASE TYPE IA IN TURKISH PATIENTS - A NOVEL MUTATION IN THE GLUCOSE-6-PHOSPHATASE GENE, Journal of inherited metabolic disease, 21(4), 1998, pp. 445-446
Authors:
SARTORATO EL
REIS FC
NORATO DYJ
HACKEL C
Citation: El. Sartorato et al., A NOVEL MUTATION IN A BRAZILIAN PATIENT WITH GLYCOGEN-STORAGE-DISEASETYPE 1A, Journal of inherited metabolic disease, 21(4), 1998, pp. 447-447
Authors:
VREKEN P
RUSCH H
HUIJBEN K
WEVERS RA
Citation: P. Vreken et al., ANION-EXCHANGE CHROMATOGRAPHY VERSUS ISOELECTRIC-FOCUSING OF TRANSFERRIN IN DIAGNOSING THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, Journal of inherited metabolic disease, 21(4), 1998, pp. 447-448
Citation: PREFACE TO SHORT COMMUNICATIONS, Journal of inherited metabolic disease, 21(3), 1998, pp. 185-185
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