Results: 1-15 |
Results: 15

Authors: HOENICKA J RODRIGUEZPOMBO P PEREZCERDA C MURO S RICHARD E UGARTE M
Citation: J. Hoenicka et al., NEW FREQUENT MUTATION IN THE PCCB GENE IN SPANISH PROPIONIC ACIDEMIA PATIENTS, Human mutation, 1998, pp. 234-236

Authors: PEREZCERDA C MERINERO B MARTI M CABRERA JC PENA L GARCIA MJ GANGOITI J SANZ P RODRIGUEZPOMBO P HOENICKA J RICHARD E MURO S UGARTE M
Citation: C. Perezcerda et al., AN UNUSUAL LATE-ONSET CASE OF PROPIONIC ACIDEMIA - BIOCHEMICAL INVESTIGATIONS, NEURORADIOLOGICAL FINDINGS AND MUTATION ANALYSIS, European journal of pediatrics, 157(1), 1998, pp. 50-52

Authors: MERINERO B PEREZCERDA C GARCIA MJ CHADEFAUXVEKEMANS B KAMOUN P TONETTI C ZITTOUN J JAKOBS C UGARTE M
Citation: B. Merinero et al., RELIABILITY OF BIOCHEMICAL PARAMETERS USED IN PRENATAL-DIAGNOSIS OF COMBINED METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, Prenatal diagnosis, 18(9), 1998, pp. 947-952

Authors: CASALE CH CASALS N PIE J ZAPATER N PEREZCERDA C MERINERO B MARTINEZPARDO M GARCIAPENAS JJ GARCIAGONZALEZ JM LAMA R POLLTHE BT SMEITINK JAM WANDERS RJA UGARTE M HEGARDT FG
Citation: Ch. Casale et al., A NONSENSE MUTATION IN THE EXON-2 OF THE 3-HYDROXY-3-METHYLGLUTARYL COENZYME-A LYASE (HL) GENE PRODUCING 3 MATURE MESSENGER-RNAS IS THE MAIN CAUSE OF 3-HYDROXY-3-METHYLGLUTARIC ACIDURIA IN EUROPEAN MEDITERRANEAN PATIENTS, Archives of biochemistry and biophysics, 349(1), 1998, pp. 129-137

Authors: RODRIGUEZPOMBO P HOENICKA J MURO S PEREZ B PEREZCERDA C RICHARD E DESVIAT LR UGARTE M
Citation: P. Rodriguezpombo et al., HUMAN PROPIONYL-COA CARBOXYLASE BETA-SUBUNIT GENE - EXON-INTRON DEFINITION AND MUTATION SPECTRUM IN SPANISH AND LATIN-AMERICAN PROPIONIC ACIDEMIA PATIENTS, American journal of human genetics, 63(2), 1998, pp. 360-369

Authors: RICHARD E DESVIAT LR PEREZ B PEREZCERDA C UGARTE M
Citation: E. Richard et al., 3 NOVEL SPLICE MUTATIONS IN THE PCCA GENE CAUSING IDENTICAL EXON SKIPPING IN PROPIONIC ACIDEMIA PATIENTS, Human genetics, 101(1), 1997, pp. 93-96

Authors: MERINERO B PEREZCERDA C GARCIA MJ GANGOITI J FONT LM SILVA MTG VIANEYSABAN C DURAN M UGARTE M
Citation: B. Merinero et al., MITOCHONDRIAL VERY LONG-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY WITH A MILD CLINICAL COURSE, Journal of inherited metabolic disease, 19(2), 1996, pp. 173-176

Authors: KASSOVSKABRATINOVA S FUKAO T SONG XQ DUNCAN AMV CHEN HS ROBERT MF PEREZCERDA C UGARTE M CHARTRAND C VOBECKY S KONDO N MITCHELL GA
Citation: S. Kassovskabratinova et al., SUCCINYL-COA - 3-OXOACID COA TRANSFERASE (SCOT) - HUMAN CDNA CLONING,HUMAN CHROMOSOMAL MAPPING TO 5P13, AND MUTATION DETECTION IN A SCOT-DEFICIENT PATIENT, American journal of human genetics, 59(3), 1996, pp. 519-528

Authors: MERINERO B PEREZCERDA C FONT LM GARCIA MJ APARICIO M LORENZO G PARDO MM GARZO C MARTINEZBERMEJO A CASTROVIEJO IP CHRISTENSEN E UGARTE M
Citation: B. Merinero et al., VARIABLE CLINICAL AND BIOCHEMICAL PRESENTATION OF 7 SPANISH CASES WITH GLUTARYL-COA-DEHYDROGENASE DEFICIENCY, Neuropediatrics, 26(5), 1995, pp. 238-242

Authors: RIUDOR E RIBES A PEREZCERDA C ARRANZ JA MORA J YESTE D CASTELLO F CHRISTENSEN B SOVIK O
Citation: E. Riudor et al., METABOLIC COMA WITH KETOACIDOSIS AND HYPERGLYCEMIA IN 2-METHYLACETOACETYL-COA THIOLASE DEFICIENCY, Journal of inherited metabolic disease, 18(6), 1995, pp. 748-749

Authors: PEREZCERDA C MERINERO B SANZ P CASTRO M GANGOITI J GARCIA MJ DIAZ M MEDINA E UGARTE M
Citation: C. Perezcerda et al., LIVER-TRANSPLANTATION IN 9 SPANISH PATIENTS WITH TYROSINEMIA TYPE-I, Journal of inherited metabolic disease, 18(2), 1995, pp. 119-122

Authors: HOENICKA J PEREZCERDA C RODRIGUEZPOMBO P UGARTE M
Citation: J. Hoenicka et al., MUTATIONS IN THE PCCB GENE ENCODING THE BETA-SUBUNIT OF PROPIONYL-COACARBOXYLASE IN SPANISH PATIENTS WITH PROPIONIC ACIDEMIA, American journal of human genetics, 57(4), 1995, pp. 1919-1919

Authors: PEREZCERDA C RODRIGUEZPOMBO P UGARTE M
Citation: C. Perezcerda et al., IDENTIFICATION OF THE INSERTION DELETION MUTATION IN SPANISH BETA-PROPIONYL-COA CARBOXYLASE-DEFICIENT PATIENTS, Journal of inherited metabolic disease, 17(6), 1994, pp. 661-663

Authors: PEREZCERDA C MERINERO B JIMENEZ A GARCIA MJ SANZ P IJLST L WANDERS RJA UGARTE M
Citation: C. Perezcerda et al., 1ST REPORT OF PRENATAL-DIAGNOSIS OF LONG-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE-DEFICIENCY IN A PREGNANCY AT RISK, Prenatal diagnosis, 13(6), 1993, pp. 529-533

Authors: PEREZCERDA C RODRIGUEZPOMBO P MERINERO B UGARTE M
Citation: C. Perezcerda et al., MUTATION ANALYSIS IN SPANISH PROPIONIC ACIDEMIA PATIENTS, American journal of human genetics, 53(3), 1993, pp. 1677-1677
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