AAAAAA

   
Results: 1-25 | 26-28
Results: 1-25/28
DELETION OF THE PROMOTER REGION IN THE ATP7A GENE OF THE MOTTLED DAPPLED MOUSE
Authors: LEVINSON B PACKMAN S GITSCHIER J
Citation: B. Levinson et al., DELETION OF THE PROMOTER REGION IN THE ATP7A GENE OF THE MOTTLED DAPPLED MOUSE, Nature genetics, 16(3), 1997, pp. 224-225
DEVELOPMENTAL EXPRESSION OF THE MOUSE MOTTLED AND TOXIC MILK GENES SUGGESTS DISTINCT FUNCTIONS FOR THE MENKES-AND-WILSON-DISEASE COPPER TRANSPORTERS
Authors: KUO YM GITSCHIER J PACKMAN S
Citation: Ym. Kuo et al., DEVELOPMENTAL EXPRESSION OF THE MOUSE MOTTLED AND TOXIC MILK GENES SUGGESTS DISTINCT FUNCTIONS FOR THE MENKES-AND-WILSON-DISEASE COPPER TRANSPORTERS, Human molecular genetics, 6(7), 1997, pp. 1043-1049
THE MOLECULAR-BASIS OF MEDIUM-CHAIN ACYL-COA DEHYDROGENASE (MCAD) DEFICIENCY IN COMPOUND HETEROZYGOUS PATIENTS - IS THERE CORRELATION BETWEEN GENOTYPE AND PHENOTYPE
Authors: ANDRESEN BS BROSS P UDVARI S KIRK J GRAY G KMOCH S CHAMOLES N KNUDSEN I WINTER V WILCKEN B YOKOTA I HART K PACKMAN S HARPEY JP SAUDUBRAY JM HALE DE BOLUND L KOLVRAA S GREGERSEN N
Citation: Bs. Andresen et al., THE MOLECULAR-BASIS OF MEDIUM-CHAIN ACYL-COA DEHYDROGENASE (MCAD) DEFICIENCY IN COMPOUND HETEROZYGOUS PATIENTS - IS THERE CORRELATION BETWEEN GENOTYPE AND PHENOTYPE, Human molecular genetics, 6(5), 1997, pp. 695-707
MUTATION ANALYSIS AND EXPRESSION OF THE MOTTLED GENE IN THE MACULAR MOUSE MODEL OF MENKES DISEASE
Authors: MURATA Y KODAMA H ABE T ISHIDA N NISHIMURA M LEVINSON B GITSCHIER J PACKMAN S
Citation: Y. Murata et al., MUTATION ANALYSIS AND EXPRESSION OF THE MOTTLED GENE IN THE MACULAR MOUSE MODEL OF MENKES DISEASE, Pediatric research, 42(4), 1997, pp. 436-442
METHYLMALONIC ACIDEMIA, COBALAMIN-C TYPE, PRESENTING WITH CUTANEOUS MANIFESTATIONS
Authors: HOWARD R FRIEDEN IJ CRAWFORD D MCCALMONT T LEVY ML ROSENBLATT DS SWEETMAN L GOODMAN SI OHNSTAD C HART K BERRIOS M PACKMAN S
Citation: R. Howard et al., METHYLMALONIC ACIDEMIA, COBALAMIN-C TYPE, PRESENTING WITH CUTANEOUS MANIFESTATIONS, Archives of dermatology, 133(12), 1997, pp. 1563-1566
MOLECULAR CORRELATIONS IN PHENYLKETONURIA - MUTATION PATTERNS AND CORRESPONDING BIOCHEMICAL AND CLINICAL PHENOTYPES IN A HETEROGENEOUS CALIFORNIA POPULATION
Authors: ENNS GM KOCH R WAKEEM C WOO SLC EISENSMITH R PACKMAN S
Citation: Gm. Enns et al., MOLECULAR CORRELATIONS IN PHENYLKETONURIA - MUTATION PATTERNS AND CORRESPONDING BIOCHEMICAL AND CLINICAL PHENOTYPES IN A HETEROGENEOUS CALIFORNIA POPULATION, American journal of human genetics, 61(4), 1997, pp. 1454-1454
ATYPICAL SEVERE MENKES-DISEASE PRESENTING WITH NEONATAL CUTIS LAXA
Authors: PACKMAN S ENNS GM OTOOLE CJ COX VA GOLABI M
Citation: S. Packman et al., ATYPICAL SEVERE MENKES-DISEASE PRESENTING WITH NEONATAL CUTIS LAXA, American journal of human genetics, 61(4), 1997, pp. 1504-1504
SUCCESSFUL EARLY COPPER THERAPY IN MENKES DISEASE-ASSOCIATED WITH A MUTANT TRANSCRIPT CONTAINING A SMALL IN-FRAME DELETION
Authors: KALER SG DAS S LEVINSON B GOLDSTEIN DS HOLMES CS PATRONAS NJ PACKMAN S GAHL WA
Citation: Sg. Kaler et al., SUCCESSFUL EARLY COPPER THERAPY IN MENKES DISEASE-ASSOCIATED WITH A MUTANT TRANSCRIPT CONTAINING A SMALL IN-FRAME DELETION, Biochemical and molecular medicine, 57(1), 1996, pp. 37-46
A REPEATED ELEMENT IN THE REGULATORY REGION OF THE MNK GENE AND ITS DELETION IN A PATIENT WITH OCCIPITAL HORN SYNDROME
Authors: LEVINSON B CONANT R SCHNUR R DAS S PACKMAN S GITSCHIER J
Citation: B. Levinson et al., A REPEATED ELEMENT IN THE REGULATORY REGION OF THE MNK GENE AND ITS DELETION IN A PATIENT WITH OCCIPITAL HORN SYNDROME, Human molecular genetics, 5(11), 1996, pp. 1737-1742
AN INTERNATIONAL-SYMPOSIUM ON WILSONS AND MENKES DISEASES
Authors: FERENCI P GILLIAM TC GITLIN JD PACKMAN S SCHILSKY ML SOKOL RJ STERNLIEB I
Citation: P. Ferenci et al., AN INTERNATIONAL-SYMPOSIUM ON WILSONS AND MENKES DISEASES, Hepatology, 24(4), 1996, pp. 952-958
USE OF AMNIOTIC-FLUID AIMING ACIDS IN PRENATAL TESTING FOR ARGININOSUCCINIC ACIDURIA AND CITRULLINEMIA
Authors: MANDELL R PACKMAN S LAFRAMBOISE R GOLBUS MS SCHMIDT K WORKMAN L SAUDUBRAY JM SHIH VE
Citation: R. Mandell et al., USE OF AMNIOTIC-FLUID AIMING ACIDS IN PRENATAL TESTING FOR ARGININOSUCCINIC ACIDURIA AND CITRULLINEMIA, Prenatal diagnosis, 16(5), 1996, pp. 419-424
L-2-HYDROXYGLUTARIC ACIDURIA - NEUROPATHOLOGICAL CORRELATIONS AND FIRST REPORT OF SEVERE NEURODEGENERATIVE DISEASE AND NEONATAL DEATH
Authors: CHEN E NYHAN WL JAKOBS C GRECO CM BARKOVICH AJ COX VA PACKMAN S
Citation: E. Chen et al., L-2-HYDROXYGLUTARIC ACIDURIA - NEUROPATHOLOGICAL CORRELATIONS AND FIRST REPORT OF SEVERE NEURODEGENERATIVE DISEASE AND NEONATAL DEATH, Journal of inherited metabolic disease, 19(3), 1996, pp. 335-343
ISOVALERIC ACIDEMIA - RESPONSE TO A LEUCINE LOAD AFTER 3 WEEKS OF SUPPLEMENTATION WITH GLYCINE, L-CARNITINE, AND COMBINED GLYCINE-CARNITINETHERAPY
Authors: FRIES MH RINALDO P SCHMIDTSOMMERFELD E JURECKI E PACKMAN S
Citation: Mh. Fries et al., ISOVALERIC ACIDEMIA - RESPONSE TO A LEUCINE LOAD AFTER 3 WEEKS OF SUPPLEMENTATION WITH GLYCINE, L-CARNITINE, AND COMBINED GLYCINE-CARNITINETHERAPY, The Journal of pediatrics, 129(3), 1996, pp. 449-452
OUTCOME OF UNRELATED DONOR BONE-MARROW TRANSPLANTATION IN 40 CHILDRENWITH HURLER-SYNDROME
Authors: PETERS C BALTHAZOR M SHAPIRO EG KING RJ KOLLMAN C HEGLAND JD HENSLEEDOWNEY J TRIGG ME COWAN MJ SANDERS J BUNIN N WEINSTEIN H LENARSKY C FALK P HARRIS R BOWEN T WILLIAMS TE GRAYSON GH WARKENTIN P SENDER L COOL VA CRITTENDEN M PACKMAN S KAPLAN P LOCKMAN LA ANDERSON J KRIVIT W DUSENBERY K WAGNER J
Citation: C. Peters et al., OUTCOME OF UNRELATED DONOR BONE-MARROW TRANSPLANTATION IN 40 CHILDRENWITH HURLER-SYNDROME, Blood, 87(11), 1996, pp. 4894-4902
CELLULAR COPPER TRANSPORT
Authors: VULPE CD PACKMAN S
Citation: Cd. Vulpe et S. Packman, CELLULAR COPPER TRANSPORT, Annual review of nutrition, 15, 1995, pp. 293-322
PRENATAL-DIAGNOSIS OF MENKES DISEASE BY MUTATION ANALYSIS
Authors: DAS S WHITNEY S TAYLOR J CHEN E LEVINSON B VULPE C GITSCHIER J PACKMAN S
Citation: S. Das et al., PRENATAL-DIAGNOSIS OF MENKES DISEASE BY MUTATION ANALYSIS, Journal of inherited metabolic disease, 18(3), 1995, pp. 364-365
3-HYDROXYISOVALERYLCARNITINE IN PATIENTS WITH DEFICIENCY OF 3-METHYLCROTONYL COA CARBOXYLASE
Authors: ROSCHINGER W MILLINGTON DS GAGE DA HUANG ZH IWAMOTO T YANO S PACKMAN S JOHNSTON K BERRY SA SWEETMAN L
Citation: W. Roschinger et al., 3-HYDROXYISOVALERYLCARNITINE IN PATIENTS WITH DEFICIENCY OF 3-METHYLCROTONYL COA CARBOXYLASE, Clinica chimica acta, 240(1), 1995, pp. 35-51
CUTANEOUS MANIFESTATIONS IN A NEONATE WITH COBALAMIN-C METHYLMALONIC ACIDEMIA
Authors: PACKMAN S HOWARD R FRIEDEN I CRAWFORD D ROSENBLATT D SWEETMAN L OHNSTAD C HART K BERRIOS M
Citation: S. Packman et al., CUTANEOUS MANIFESTATIONS IN A NEONATE WITH COBALAMIN-C METHYLMALONIC ACIDEMIA, American journal of human genetics, 57(4), 1995, pp. 1042-1042
DELETION OF ONE OF 3 TANDEM REPEATS IN THE 5' REGION OF THE MENKES GENE IN A PATIENT WITH OCCIPITAL HORN SYNDROME
Authors: LEVINSON B CONANT R SCHNUR R DAS S PACKMAN S GITSCHIER J
Citation: B. Levinson et al., DELETION OF ONE OF 3 TANDEM REPEATS IN THE 5' REGION OF THE MENKES GENE IN A PATIENT WITH OCCIPITAL HORN SYNDROME, American journal of human genetics, 57(4), 1995, pp. 1418-1418
SIMILAR SPLICING MUTATIONS OF THE MENKES MOTTLED COPPER-TRANSPORTING ATPASE GENE IN OCCIPITAL HORN SYNDROME AND THE BLOTCHY MOUSE
Authors: DAS S LEVINSON B VULPE C WHITNEY S GITSCHIER J PACKMAN S
Citation: S. Das et al., SIMILAR SPLICING MUTATIONS OF THE MENKES MOTTLED COPPER-TRANSPORTING ATPASE GENE IN OCCIPITAL HORN SYNDROME AND THE BLOTCHY MOUSE, American journal of human genetics, 56(3), 1995, pp. 570-576
RFLVS IN MOTTLED DAPPLED ALLELES - REPLY
Authors: LEVINSON B VULPE C ELDER B MARTIN C PACKMAN S GITSCHIER J VERLY F
Citation: B. Levinson et al., RFLVS IN MOTTLED DAPPLED ALLELES - REPLY, Nature genetics, 8(1), 1994, pp. 12-12
THE MOTTLED GENE IS THE MOUSE HOMOLOG OF THE MENKES DISEASE GENE
Authors: LEVINSON B VULPE C ELDER B MARTIN C VERLEY F PACKMAN S GITSCHIER J
Citation: B. Levinson et al., THE MOTTLED GENE IS THE MOUSE HOMOLOG OF THE MENKES DISEASE GENE, Nature genetics, 6(4), 1994, pp. 369-373
TRICHOTHIODYSTROPHY - CLINICAL SPECTRUM, CENTRAL-NERVOUS-SYSTEM IMAGING, AND BIOCHEMICAL-CHARACTERIZATION OF 2 SIBLINGS
Authors: CHEN E CLEAVER JE WEBER CA PACKMAN S BARKOVICH AJ KOCH TK WILLIAMS ML GOLABI M PRICE VH
Citation: E. Chen et al., TRICHOTHIODYSTROPHY - CLINICAL SPECTRUM, CENTRAL-NERVOUS-SYSTEM IMAGING, AND BIOCHEMICAL-CHARACTERIZATION OF 2 SIBLINGS, Journal of investigative dermatology, 103(5), 1994, pp. 190000154-190000158
DISCRIMINATION ARISING FROM GENETIC INFORMATION
Authors: SMITH KR PACKMAN S BILLINGS PR
Citation: Kr. Smith et al., DISCRIMINATION ARISING FROM GENETIC INFORMATION, Clinical research, 42(1), 1994, pp. 10000063-10000063
PRENATAL COUNSELING IN HETEROZYGOTES FOR ORNITHINE TRANSCARBAMYLASE DEFICIENCY
Authors: FRIES MH KULLER JA JURECKI E PACKMAN S
Citation: Mh. Fries et al., PRENATAL COUNSELING IN HETEROZYGOTES FOR ORNITHINE TRANSCARBAMYLASE DEFICIENCY, Clinical pediatrics, 33(9), 1994, pp. 525-529
Risultati: 1-25 | 26-28