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Results: 1-7 |
Results: 7
MOLECULAR ANALYSIS AND PRENATAL-DIAGNOSIS OF HUMAN FUMARASE DEFICIENCY
Authors: COUGHLIN EM CHRISTENSEN E KUNZ PL KRISHNAMOORTHY KS WALKER V DENNIS NR CHALMERS RA ELPELEG ON WHELAN D POLLITT RJ RAMESH V MANDELL R SHIH VE
Citation: Em. Coughlin et al., MOLECULAR ANALYSIS AND PRENATAL-DIAGNOSIS OF HUMAN FUMARASE DEFICIENCY, MOLECULAR GENETICS AND METABOLISM, 63(4), 1998, pp. 254-262
NEONATAL ONSET OF HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME WITH FAVORABLE OUTCOME
Authors: ZAMMARCHI E CIANI F PASQUINI E BONOCORE G SHIH VE DONATI MA
Citation: E. Zammarchi et al., NEONATAL ONSET OF HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME WITH FAVORABLE OUTCOME, The Journal of pediatrics, 131(3), 1997, pp. 440-443
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
ORGAN DONATION BY A MAPLE-SYRUP-URINE-DISEASE PATIENT
Authors: SHIH VE STEWART B
Citation: Ve. Shih et B. Stewart, ORGAN DONATION BY A MAPLE-SYRUP-URINE-DISEASE PATIENT, Journal of inherited metabolic disease, 18(3), 1995, pp. 367-367
A MISSENSE MUTATION (1278T) IN THE CYSTATHIONINE BETA-SYNTHASE GENE PREVALENT IN PYRIDOXINE-RESPONSIVE HOMOCYSTINURIA, AND ASSOCIATED WITH MILD CLINICAL PHENOTYPE
Authors: SHIH VE FRINGER JM MANDELL R KRAUS JP BERRY GT HEIDENREICH RA KORSON MS LEVY HL RAMESH V
Citation: Ve. Shih et al., A MISSENSE MUTATION (1278T) IN THE CYSTATHIONINE BETA-SYNTHASE GENE PREVALENT IN PYRIDOXINE-RESPONSIVE HOMOCYSTINURIA, AND ASSOCIATED WITH MILD CLINICAL PHENOTYPE, American journal of human genetics, 57(1), 1995, pp. 34-39
MOLECULAR-BASIS OF CYSTATHIONINE BETA-SYNTHASE DEFICIENCY IN PYRIDOXINE RESPONSIVE AND NONRESPONSIVE HOMOCYSTINURIA
Authors: HU FL GU Z KOZICH V KRAUS JP RAMESH V SHIH VE
Citation: Fl. Hu et al., MOLECULAR-BASIS OF CYSTATHIONINE BETA-SYNTHASE DEFICIENCY IN PYRIDOXINE RESPONSIVE AND NONRESPONSIVE HOMOCYSTINURIA, Human molecular genetics, 2(11), 1993, pp. 1857-1860
IDENTIFICATION OF A MOLECULAR DEFECT IN A FUMARASE DEFICIENT PATIENT AND MAPPING OF THE FUMARASE GENE
Authors: COUGHLIN EM CHALMERS RA SLAUGENHAUPT SA GUSELLA JF SHIH VE RAMESH V
Citation: Em. Coughlin et al., IDENTIFICATION OF A MOLECULAR DEFECT IN A FUMARASE DEFICIENT PATIENT AND MAPPING OF THE FUMARASE GENE, American journal of human genetics, 53(3), 1993, pp. 896-896
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