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Results: 1-25 | 26-45
Results: 1-25/45
W474C AMINO-ACID SUBSTITUTION AFFECTS EARLY PROCESSING OF THE ALPHA-SUBUNIT OF BETA-HEXOSAMINIDASE-A AND IS ASSOCIATED WITH SUBACUTE G(M2) GANGLIOSIDOSIS
Authors: PETROULAKIS E CAO ZM CLARKE JTR MAHURAN DJ LEE G TRIGGSRAINE B
Citation: E. Petroulakis et al., W474C AMINO-ACID SUBSTITUTION AFFECTS EARLY PROCESSING OF THE ALPHA-SUBUNIT OF BETA-HEXOSAMINIDASE-A AND IS ASSOCIATED WITH SUBACUTE G(M2) GANGLIOSIDOSIS, Human mutation, 11(6), 1998, pp. 432-442
SEVERE PRENATAL GROWTH-RETARDATION, DYSMORPHIC FEATURES, PIGMENTARY RETINOPATHY, AND GENERALIZED ABSENCE OF SUBCUTANEOUS TISSUES - A NEW ENTITY
Authors: NOWACZYK MJM HUGHES HE COSTA T CLARKE JTR
Citation: Mjm. Nowaczyk et al., SEVERE PRENATAL GROWTH-RETARDATION, DYSMORPHIC FEATURES, PIGMENTARY RETINOPATHY, AND GENERALIZED ABSENCE OF SUBCUTANEOUS TISSUES - A NEW ENTITY, Clinical dysmorphology, 7(4), 1998, pp. 263-268
ASP332ASN, A PUTATIVE ACTIVE-SITE MUTATION IN GM1 GANGLIOSIDOSIS
Authors: CALLAHAN JW ZHANG S BAGSHAW R CLARKE JTR
Citation: Jw. Callahan et al., ASP332ASN, A PUTATIVE ACTIVE-SITE MUTATION IN GM1 GANGLIOSIDOSIS, The FASEB journal, 12(4), 1998, pp. 1130-1130
RESTING ENERGY-EXPENDITURE IN PHENYLKETONURIA AND MAPLE-SYRUP-URINE-DISEASE
Authors: BROSS R BALL RO CLARKE JTR PENCHARZ PB
Citation: R. Bross et al., RESTING ENERGY-EXPENDITURE IN PHENYLKETONURIA AND MAPLE-SYRUP-URINE-DISEASE, The FASEB journal, 12(4), 1998, pp. 3149-3149
CARDIAC TRANSPLANTATION FOR FABRYS-DISEASE
Authors: CANTOR WJ DALY P IWANOCHKO M CLARKE JTR CUSIMANO RJ BUTANY J
Citation: Wj. Cantor et al., CARDIAC TRANSPLANTATION FOR FABRYS-DISEASE, Canadian journal of cardiology, 14(1), 1998, pp. 81-84
SUCCESSFUL TREATMENT OF COBALAMIN-C DISEASE
Authors: RENAUD DL CLARKE JTR
Citation: Dl. Renaud et Jtr. Clarke, SUCCESSFUL TREATMENT OF COBALAMIN-C DISEASE, Annals of neurology, 44(3), 1998, pp. 33-33
LATE-ONSET LEIGH-SYNDROME AND CEREBELLAR-ATAXIA DUE TO A T-TO-C MUTATION AT POSITION-9185 OF MITOCHONDRIAL-DNA
Authors: CASTAGNA AE MCINNES RR BECKER LE CLARKE JTR ASHBY P BLASER S ROBINSON BH
Citation: Ae. Castagna et al., LATE-ONSET LEIGH-SYNDROME AND CEREBELLAR-ATAXIA DUE TO A T-TO-C MUTATION AT POSITION-9185 OF MITOCHONDRIAL-DNA, Annals of neurology, 44(3), 1998, pp. 42-42
EARLY TREATMENT OF MENKES DISEASE WITH PARENTERAL COOPER-HISTIDINE - LONG-TERM FOLLOW-UP OF 4 TREATED PATIENTS
Authors: CHRISTODOULOU J DANKS DM SARKAR B BAERLOCHER KE CASEY R HORN N TUMER Z CLARKE JTR
Citation: J. Christodoulou et al., EARLY TREATMENT OF MENKES DISEASE WITH PARENTERAL COOPER-HISTIDINE - LONG-TERM FOLLOW-UP OF 4 TREATED PATIENTS, American journal of medical genetics, 76(2), 1998, pp. 154-164
CENTRAL-NERVOUS-SYSTEM MALFORMATIONS IN ETHYLMALONIC ENCEPHALOPATHY
Authors: NOWACZYK MJM BLASER SI CLARKE JTR
Citation: Mjm. Nowaczyk et al., CENTRAL-NERVOUS-SYSTEM MALFORMATIONS IN ETHYLMALONIC ENCEPHALOPATHY, American journal of medical genetics, 75(3), 1998, pp. 292-296
ETHYLMALONIC AND METHYLSUCCINIC ACIDURIA IN ETHYLMALONIC ENCEPHALOPATHY ARISE FROM ABNORMAL ISOLEUCINE METABOLISM
Authors: NOWACZYK MJM LEHOTAY DC PLATT BA FISHER L TAN R PHILLIPS H CLARKE JTR
Citation: Mjm. Nowaczyk et al., ETHYLMALONIC AND METHYLSUCCINIC ACIDURIA IN ETHYLMALONIC ENCEPHALOPATHY ARISE FROM ABNORMAL ISOLEUCINE METABOLISM, Metabolism, clinical and experimental, 47(7), 1998, pp. 836-839
RANDOMIZED CONTROLLED TRIAL OF TYROSINE SUPPLEMENTATION ON NEUROPSYCHOLOGICAL PERFORMANCE IN PHENYLKETONURIA
Authors: SMITH ML HANLEY WB CLARKE JTR KLIM P SCHOONHEYT W AUSTIN V LEHOTAY DC
Citation: Ml. Smith et al., RANDOMIZED CONTROLLED TRIAL OF TYROSINE SUPPLEMENTATION ON NEUROPSYCHOLOGICAL PERFORMANCE IN PHENYLKETONURIA, Archives of Disease in Childhood, 78(2), 1998, pp. 116-121
AMERINDIAN PYRUVATE-CARBOXYLASE DEFICIENCY IS ASSOCIATED WITH 2 DISTINCT MISSENSE MUTATIONS
Authors: CARBONE MA MACKAY N LING MF COLE DEC DOUGLAS C RIGAT B FEIGENBAUM A CLARKE JTR HAWORTH JC GREENBERG CR SEARGEANT L ROBINSON BH
Citation: Ma. Carbone et al., AMERINDIAN PYRUVATE-CARBOXYLASE DEFICIENCY IS ASSOCIATED WITH 2 DISTINCT MISSENSE MUTATIONS, American journal of human genetics, 62(6), 1998, pp. 1312-1319
TYROSINE REQUIREMENT IN CHILDREN WITH PKU DETERMINED BY INDICATOR AMINO-ACID OXIDATION
Authors: BROSS R BALL RO CLARKE JTR PENCHARZ PB
Citation: R. Bross et al., TYROSINE REQUIREMENT IN CHILDREN WITH PKU DETERMINED BY INDICATOR AMINO-ACID OXIDATION, The FASEB journal, 11(3), 1997, pp. 2531-2531
NEWBORN PHENYLKETONURIA (PKU) GUTHRIE (BIA) SCREENING AND EARLY HOSPITAL DISCHARGE
Authors: HANLEY WB DEMSHAR H PRESTON MA BORCZYK A SCHOONHEYT WE CLARKE JTR FEIGENBAUM A
Citation: Wb. Hanley et al., NEWBORN PHENYLKETONURIA (PKU) GUTHRIE (BIA) SCREENING AND EARLY HOSPITAL DISCHARGE, Early human development, 47(1), 1997, pp. 87-96
DELETION-4Q21 4Q22 SYNDROME - 2 PATIENTS WITH DE-NOVO 4Q21.3Q23 AND 4Q13.2Q23 DELETIONS/
Authors: NOWACZYK MJM TESHIMA IE SIEGELBARTELT J CLARKE JTR
Citation: Mjm. Nowaczyk et al., DELETION-4Q21 4Q22 SYNDROME - 2 PATIENTS WITH DE-NOVO 4Q21.3Q23 AND 4Q13.2Q23 DELETIONS/, American journal of medical genetics, 69(4), 1997, pp. 400-405
HYPERPHAGIA IN PATIENTS WITH ALPHA-MANNOSIDOSIS TYPE-II
Authors: OWAYED A CLARKE JTR
Citation: A. Owayed et Jtr. Clarke, HYPERPHAGIA IN PATIENTS WITH ALPHA-MANNOSIDOSIS TYPE-II, Journal of inherited metabolic disease, 20(5), 1997, pp. 727-728
IMMUNOABLATION DOES NOT DELAY THE NEUROLOGIC PROGRESSION OF X-LINKED ADRENOLEUKODYSTROPHY
Authors: NOWACZYK MJM SAUNDERS EF TEIN I BLASER SI CLARKE JTR
Citation: Mjm. Nowaczyk et al., IMMUNOABLATION DOES NOT DELAY THE NEUROLOGIC PROGRESSION OF X-LINKED ADRENOLEUKODYSTROPHY, The Journal of pediatrics, 131(3), 1997, pp. 453-455
CARDIOMYOPATHY IN MUCOPOLYSACCHARIDOSIS-I - GENOTYPE-PHENOTYPE CORRELATION IN 3 PATIENTS
Authors: NOWACZYK MJM CLARKE LA CLARKE JTR
Citation: Mjm. Nowaczyk et al., CARDIOMYOPATHY IN MUCOPOLYSACCHARIDOSIS-I - GENOTYPE-PHENOTYPE CORRELATION IN 3 PATIENTS, American journal of human genetics, 61(4), 1997, pp. 1502-1502
CHARACTERIZATION OF AN FBN1 GENE MUTATION, G1013R, IN A CHILD WITH NEONATAL MARFAN-SYNDROME (NMFS) AND MITOCHONDRIAL COMPLEX (CI) DEFICIENCY
Authors: ADES LC HOLMAN KJ WATSON KC MURRELL M CLARKE JTR CHRISTODOULOU J
Citation: Lc. Ades et al., CHARACTERIZATION OF AN FBN1 GENE MUTATION, G1013R, IN A CHILD WITH NEONATAL MARFAN-SYNDROME (NMFS) AND MITOCHONDRIAL COMPLEX (CI) DEFICIENCY, American journal of human genetics, 61(4), 1997, pp. 2367-2367
EARLY COPPER-HISTIDINE TREATMENT FOR MENKES DISEASE
Authors: TUMER Z HORN N TONNESEN T CHRISTODOULOU J CLARKE JTR SARKAR B
Citation: Z. Tumer et al., EARLY COPPER-HISTIDINE TREATMENT FOR MENKES DISEASE, Nature genetics, 12(1), 1996, pp. 11-13
GENE-TRANSFER THERAPY OF GAUCHER DISEASE
Authors: CLARKE JTR MAHURAN D CALLAHAN JW THORNER P
Citation: Jtr. Clarke et al., GENE-TRANSFER THERAPY OF GAUCHER DISEASE, Transfusion science, 17(1), 1996, pp. 45-52
VITAMIN-B-12 DEFICIENCY IN ADOLESCENTS AND YOUNG-ADULTS WITH PHENYLKETONURIA
Authors: HANLEY WB FEIGENBAUM ASJ CLARKE JTR SCHOONHEYT WE AUSTIN VJ
Citation: Wb. Hanley et al., VITAMIN-B-12 DEFICIENCY IN ADOLESCENTS AND YOUNG-ADULTS WITH PHENYLKETONURIA, European journal of pediatrics, 155, 1996, pp. 145-147
EVOLUTION OF THE NEUROIMAGING CHANGES IN FUCOSIDOSIS TYPE-II
Authors: TERESPOLSKY D CLARKE JTR BLASER SI
Citation: D. Terespolsky et al., EVOLUTION OF THE NEUROIMAGING CHANGES IN FUCOSIDOSIS TYPE-II, Journal of inherited metabolic disease, 19(6), 1996, pp. 775-781
PULMONARY INFILTRATION IN NIEMANN-PICK DISEASE TYPE-C
Authors: KOVESI TA LEE J SHUCKETT B CLARKE JTR CALLAHAN JW PHILLIPS MJ
Citation: Ta. Kovesi et al., PULMONARY INFILTRATION IN NIEMANN-PICK DISEASE TYPE-C, Journal of inherited metabolic disease, 19(6), 1996, pp. 792-793
TREATMENT OF FAMILIAL HYPERCHOLESTEROLEMIA IN CHILDREN AND ADOLESCENTS - EFFECT OF LOVASTATIN
Authors: LAMBERT M LUPIEN PJ GAGNE C LEVY E BLAICHMAN S LANGLOIS S HAYDEN M ROSE V CLARKE JTR WOLFE BMJ CLARSON C PARSONS H STEPHURE DK POTVIN D LAMBERT J VANVLIET G LEFEVRE Y DESROCHERS M GODARD M SZOTS F ROY N NAVRATIL O TKACHUK A JOHNSON F MCINTYRE S DONNELLY D CANN M PAULI P MARCHAND A GREBENC K FROLICH J MCGUINNESS C DEBELDER M DUCHARME AM
Citation: M. Lambert et al., TREATMENT OF FAMILIAL HYPERCHOLESTEROLEMIA IN CHILDREN AND ADOLESCENTS - EFFECT OF LOVASTATIN, Pediatrics, 97(5), 1996, pp. 619-628
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