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Results: 1-8 |
Results: 8
AN UNUSUAL LATE-ONSET CASE OF PROPIONIC ACIDEMIA - BIOCHEMICAL INVESTIGATIONS, NEURORADIOLOGICAL FINDINGS AND MUTATION ANALYSIS
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
RELIABILITY OF BIOCHEMICAL PARAMETERS USED IN PRENATAL-DIAGNOSIS OF COMBINED METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA
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
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
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
MITOCHONDRIAL VERY LONG-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY WITH A MILD CLINICAL COURSE
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
VARIABLE CLINICAL AND BIOCHEMICAL PRESENTATION OF 7 SPANISH CASES WITH GLUTARYL-COA-DEHYDROGENASE DEFICIENCY
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
LIVER-TRANSPLANTATION IN 9 SPANISH PATIENTS WITH TYROSINEMIA TYPE-I
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
1ST REPORT OF PRENATAL-DIAGNOSIS OF LONG-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE-DEFICIENCY IN A PREGNANCY AT RISK
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
MUTATION ANALYSIS IN SPANISH PROPIONIC ACIDEMIA PATIENTS
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
Risultati: 1-8 |