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Results: 1-16 |
Results: 16
DUARTE ALLELE IMPAIRS BIOSTABILITY OF GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE IN HUMAN LYMPHOBLASTS
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
DUARTE ALLELE IMPAIRS BIOSTABILITY OF GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE IN HUMAN LYMPHOBLASTS
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
FOLATE INDEXES ARE LOWER IN GENOTYPED CARRIERS FOR CYSTATHIONINE-BETA-SYNTHASE (C-BETA-S) DEFICIENCY THAN IN NON-CARRIER FAMILY MEMBERS
Authors: BODDIE AM STEEN MT LANGLEY SD COTSONIS GA ELASA LJ KRUGER WD
Citation: Am. Boddie et al., FOLATE INDEXES ARE LOWER IN GENOTYPED CARRIERS FOR CYSTATHIONINE-BETA-SYNTHASE (C-BETA-S) DEFICIENCY THAN IN NON-CARRIER FAMILY MEMBERS, The FASEB journal, 12(4), 1998, pp. 2971-2971
ROLE OF ARGININE-86 OF THE INSULIN-RECEPTOR IN INSULIN BINDING AND ACTIVATION OF GLUCOSE-TRANSPORT
Authors: LONGO N LANGLEY SD STILL MJ
Citation: N. Longo et al., ROLE OF ARGININE-86 OF THE INSULIN-RECEPTOR IN INSULIN BINDING AND ACTIVATION OF GLUCOSE-TRANSPORT, Biochimica et biophysica acta. Molecular cell research, 1402(1), 1998, pp. 86-94
MOLECULAR-BASIS FOR DUARTE AND LOS-ANGELES VARIANT GALACTOSEMIA
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
A SEVERE FORM OF LEPRECHAUNISM CAUSED BY 2 NULL ALLELES FOR THE INSULIN-RECEPTOR
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
A PREVALENT MUTATION FOR GALACTOSEMIA AMONG BLACK-AMERICANS
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
IMPAIRMENT OF GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE (GALT) ACTIVITYDUE TO THE S135L MUTATION IN THE GALT GENE IS TISSUE-SPECIFIC
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
PRENATAL ANALYSIS OF THE INSULIN-RECEPTOR GENE IN A FAMILY WITH LEPRECHAUNISM
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
2 MUTATIONS IN THE INSULIN-RECEPTOR GENE OF A PATIENT WITH LEPRECHAUNISM - APPLICATION TO PRENATAL-DIAGNOSIS
Authors: LONGO N LANGLEY SD GRIFFIN LD ELSAS LJ
Citation: N. Longo et al., 2 MUTATIONS IN THE INSULIN-RECEPTOR GENE OF A PATIENT WITH LEPRECHAUNISM - APPLICATION TO PRENATAL-DIAGNOSIS, The Journal of clinical endocrinology and metabolism, 80(5), 1995, pp. 1496-1501
MOLECULAR CHARACTERIZATION OF NEGRO VARIANT OF GALACTOSEMIA
Authors: LAI K LANGLEY SD SINGH R DEMBURE PP HJELM N ELSAS LJ
Citation: K. Lai et al., MOLECULAR CHARACTERIZATION OF NEGRO VARIANT OF GALACTOSEMIA, American journal of human genetics, 57(4), 1995, pp. 1036-1036
IDENTIFICATION AND FUNCTIONAL-ANALYSIS OF 3 DISTINCT MUTATIONS IN THEHUMAN GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE GENE ASSOCIATED WITH GALACTOSEMIA IN A SINGLE-FAMILY
Authors: FRIDOVICHKEIL JL LANGLEY SD MAZUR LA LENNON JC DEMBURE PP ELSAS LJ
Citation: Jl. Fridovichkeil et al., IDENTIFICATION AND FUNCTIONAL-ANALYSIS OF 3 DISTINCT MUTATIONS IN THEHUMAN GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE GENE ASSOCIATED WITH GALACTOSEMIA IN A SINGLE-FAMILY, American journal of human genetics, 56(3), 1995, pp. 640-646
A MOLECULAR APPROACH TO GALACTOSEMIA
Authors: ELSAS LJ LANGLEY SD PAULK EM FERNHOFF PM DEMBURE PP
Citation: Lj. Elsas et al., A MOLECULAR APPROACH TO GALACTOSEMIA, Pediatric research, 35(4), 1994, pp. 10000151-10000151
IMPAIRED GROWTH IN RABSON-MENDENHALL SYNDROME - LACK OF EFFECT OF GROWTH-HORMONE AND INSULIN-LIKE GROWTH-FACTOR-I
Authors: LONGO N SINGH R GRIFFIN LD LANGLEY SD PARKS JS ELSAS LJ
Citation: N. Longo et al., IMPAIRED GROWTH IN RABSON-MENDENHALL SYNDROME - LACK OF EFFECT OF GROWTH-HORMONE AND INSULIN-LIKE GROWTH-FACTOR-I, The Journal of clinical endocrinology and metabolism, 79(3), 1994, pp. 799-805
THE INSULIN-RECEPTOR TOLERATES SUBSTITUTION OF ARGININE-86 WITH ALANINE AND GLYCINE, BUT NOT WITH PROLINE
Authors: LONGO N LANGLEY SD GRIFFIN LD ELSAS LJ
Citation: N. Longo et al., THE INSULIN-RECEPTOR TOLERATES SUBSTITUTION OF ARGININE-86 WITH ALANINE AND GLYCINE, BUT NOT WITH PROLINE, Clinical research, 42(2), 1994, pp. 10000209-10000209
IDENTIFICATION OF 2 NOVEL MUTATIONS IN THE INSULIN-RECEPTOR GENE OF APATIENT WITH LEPRECHAUNISM - APPLICATION TO PRENATAL-DIAGNOSIS
Authors: LONGO N LANGLEY SD GRIFFIN LD ELSAS LJ
Citation: N. Longo et al., IDENTIFICATION OF 2 NOVEL MUTATIONS IN THE INSULIN-RECEPTOR GENE OF APATIENT WITH LEPRECHAUNISM - APPLICATION TO PRENATAL-DIAGNOSIS, American journal of human genetics, 53(3), 1993, pp. 922-922
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