AAAAAA
Results: 1-25/47
Authors:
LAI K
LANGLEY SD
DEMBURE PP
HJELM LN
ELSAS LJ
Citation: K. Lai et al., DUARTE ALLELE IMPAIRS BIOSTABILITY OF GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE IN HUMAN LYMPHOBLASTS, Human mutation, 11(1), 1998, pp. 28-38
Authors:
LAI K
LANGLEY SD
DEMBURE PP
HJELM LN
ELSAS LJ
Citation: K. Lai et al., DUARTE ALLELE IMPAIRS BIOSTABILITY OF GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE IN HUMAN LYMPHOBLASTS, Human mutation, 11(1), 1998, pp. 28-38
Authors:
HAYES RP
GRINZAID KA
DUFFEY EB
ELSAS LJ
Citation: Rp. Hayes et al., THE IMPACT OF GAUCHER-DISEASE AND ITS TREATMENT ON QUALITY-OF-LIFE, Quality of life research, 7(6), 1998, pp. 521-534
Authors:
STEEN MT
BODDIE AM
FISHER AJ
MACMAHON W
SAXE D
SULLIVAN KM
DEMBURE PP
ELSAS LJ
Citation: Mt. Steen et al., NEURAL-TUBE DEFECTS ARE ASSOCIATED WITH LOW CONCENTRATIONS OF COBALAMIN (VITAMIN-B-12) IN AMNIOTIC-FLUID, Prenatal diagnosis, 18(6), 1998, pp. 545-555
Authors:
BODDIE AM
STEEN MT
SULLIVAN KM
PASQUALI M
DEMBURE PP
COATES RJ
ELSAS LJ
Citation: Am. Boddie et al., CYSTATHIONINE-BETA-SYNTHASE DEFICIENCY - DETECTION OF HETEROZYGOTES BY THE RATIOS OF HOMOCYSTEINE TO CYSTEINE AND FOLATE, Metabolism, clinical and experimental, 47(2), 1998, pp. 207-211
Authors:
GOODMAN SI
ELSAS LJ
ROSENBLATT DS
Citation: Si. Goodman et al., ASHG ACMG STATEMENT - MEASUREMENT AND USE OF TOTAL PLASMA HOMOCYSTEINE/, American journal of human genetics, 63(5), 1998, pp. 1541-1543
Authors:
PASQUALI M
STILL MJ
VALES T
ROSEN RI
EVINGER JD
DEMBURE PP
LONGO N
ELSAS LJ
Citation: M. Pasquali et al., ABNORMAL FORMATION OF COLLAGEN CROSS-LINKS IN SKIN FIBROBLASTS CULTURED FROM PATIENTS WITH EHLERS-DANLOS SYNDROME TYPE-VI, Proceedings of the Association of American Physicians, 109(1), 1997, pp. 33-41
Authors:
BERRY GT
NISSIM I
GIBSON JB
MAZUR AT
LIN Z
ELSAS LJ
SINGH RH
KLEIN PD
SEGAL S
Citation: Gt. Berry et al., QUANTITATIVE ASSESSMENT OF WHOLE-BODY GALACTOSE METABOLISM IN GALACTOSEMIC PATIENTS, European journal of pediatrics, 156, 1997, pp. 43-49
Authors:
EATON SB
WOODFIN BA
ASKEW JL
MORRISEY BM
ELSAS LJ
SHOOP JL
MARTIN EA
CANTWELL JD
Citation: Sb. Eaton et al., THE POLYCLINIC AT THE 1996 ATLANTA OLYMPIC-VILLAGE, Medical journal of Australia, 167(11-12), 1997, pp. 599-602
Authors:
LANDT M
RITTER D
LAI K
BENKE PJ
ELSAS LJ
STEINER RD
Citation: M. Landt et al., BLACK-CHILDREN DEFICIENT IN GALACTOSE 1-PHOSPHATE URIDYLTRANSFERASE -CORRELATION OF ACTIVITY, AND IMMUNOREACTIVE PROTEIN IN ERYTHROCYTES AND LEUKOCYTES, The Journal of pediatrics, 130(6), 1997, pp. 972-980
Authors:
STEEN MT
BODDIE AM
FISHER AJ
MACMAHON W
SAXE D
SULLIVAN KM
DEMBURE PP
ELSAS LJ
Citation: Mt. Steen et al., NEURAL-TUBE DEFECTS ARE ASSOCIATED WITH LOW CONCENTRATIONS OF COBALAMIN (VITAMIN-B-12) IN AMNIOTIC-FLUID, American journal of human genetics, 61(4), 1997, pp. 166-166
Authors:
LAI K
WILLIS AC
ELSAS LJ
Citation: K. Lai et al., CATALYTIC ROLE OF GLUTAMINE-188 (Q188) IN GALACTOSE-1-P URIDYLTRANSFERASE, American journal of human genetics, 61(4), 1997, pp. 1485-1485
Authors:
LANGLEY SD
LAI K
DEMBURE PP
HJELM LN
ELSAS LJ
Citation: Sd. Langley et al., MOLECULAR-BASIS FOR DUARTE AND LOS-ANGELES VARIANT GALACTOSEMIA, American journal of human genetics, 60(2), 1997, pp. 366-372
Authors:
PASQUALI M
STILL MJ
EVINGER JD
DEMBURE PP
LONGO N
ELSAS LJ
Citation: M. Pasquali et al., EFFECT OF VITAMIN-C ON PYRIDINIUM CROSS-LINK FORMATION IN SKIN FIBROBLASTS FROM PATIENTS WITH EHLERS-DANLOS-SYNDROME TYPE-VI, Journal of investigative medicine, 44(3), 1996, pp. 226-226
Authors:
LONGO N
LANGLEY SD
ELSAS LJ
Citation: N. Longo et al., A SEVERE FORM OF LEPRECHAUNISM CAUSED BY 2 NULL ALLELES FOR THE INSULIN-RECEPTOR, Journal of investigative medicine, 44(3), 1996, pp. 259-259
Authors:
EISENSMITH RC
MARTINEZ DR
KUZMIN AI
GOLTSOV AA
BROWN A
SINGH R
ELSAS LJ
WOO SLC
Citation: Rc. Eisensmith et al., MOLECULAR-BASIS OF PHENYLKETONURIA AND A CORRELATION BETWEEN GENOTYPEAND PHENOTYPE IN A HETEROGENEOUS SOUTHEASTERN US POPULATION, Pediatrics, 97(4), 1996, pp. 512-516
Authors:
STEINER RD
RITTER D
LAI K
BENKE PJ
ELSAS LJ
LANDT M
Citation: Rd. Steiner et al., BIOCHEMICAL AND MOLECULAR-BASIS FOR THE AFRICAN-AMERICAN VARIANT OF GALACTOSEMIA, Pediatric research, 39(4), 1996, pp. 873-873
Authors:
LAI K
LANGLEY SD
SINGH RH
DEMBURE PP
HJELM LN
ELSAS LJ
Citation: K. Lai et al., A PREVALENT MUTATION FOR GALACTOSEMIA AMONG BLACK-AMERICANS, The Journal of pediatrics, 128(1), 1996, pp. 89-95
Authors:
BERRY GT
NISSIM I
MAZUR AT
ELSAS LJ
SINGH RH
KLEIN PD
GIBSON JB
LIN ZP
SEGAL S
Citation: Gt. Berry et al., IN-VIVO OXIDATION OF [C-13]GALACTOSE IN PATIENTS WITH GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE DEFICIENCY, Biochemical and molecular medicine, 56(2), 1995, pp. 158-165
Authors:
LAI K
LANGLEY SD
FRIDOVICHKIEL JL
HJELM N
ELSAS LJ
Citation: K. Lai et al., IMPAIRMENT OF GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE (GALT) ACTIVITYDUE TO THE S135L MUTATION IN THE GALT GENE IS TISSUE-SPECIFIC, The FASEB journal, 9(4), 1995, pp. 999-999
Authors:
ELSAS LJ
LANGLEY S
PAULK EM
HJELM LN
DEMBURE PP
Citation: Lj. Elsas et al., A MOLECULAR APPROACH TO GALACTOSEMIA, European journal of pediatrics, 154(7), 1995, pp. 21-27
Authors:
LONGO N
LANGLEY SD
STILL MJ
ELSAS LJ
Citation: N. Longo et al., PRENATAL ANALYSIS OF THE INSULIN-RECEPTOR GENE IN A FAMILY WITH LEPRECHAUNISM, Prenatal diagnosis, 15(11), 1995, pp. 1070-1074
Authors:
BENNET JK
DEMBURE PP
ELSAS LJ
Citation: Jk. Bennet et al., CLINICAL-ANALYSIS AND BIOCHEMICAL-ANALYSIS OF 2 FAMILIES WITH TYPE-I AND TYPE-II MANNOSIDOSIS, American journal of medical genetics, 55(1), 1995, pp. 21-26
Authors:
BERRY GT
MAZUR AT
SINGH R
ELSAS LJ
KLEIN PD
NISSIM I
GIBSON JB
SEGAL S
Citation: Gt. Berry et al., IN-VIVO OXIDATION OF [C-13]GALACTOSE IN GALACTOSEMIC PATIENTS WITH COMPLICATIONS AND THE Q188R ALLELE, Pediatric research, 37(4), 1995, pp. 147-147
Authors:
GIBSON JB
REYNOLDS RA
PALMIERI MJ
BERRY GT
ELSAS LJ
LEVY HL
SEGAL S
Citation: Jb. Gibson et al., COMPARISON OF ERYTHROCYTE URIDINE SUGAR NUCLEOTIDE LEVELS IN NORMALS,CLASSIC GALACTOSEMICS, AND PATIENTS WITH OTHER METABOLIC DISORDERS, Metabolism, clinical and experimental, 44(5), 1995, pp. 597-604