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
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