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Results: 1-8 |
Results: 8
X-LINKED ADRENOLEUKODYSTROPHY - PHENOTYPE DISTRIBUTION AND EXPRESSIONOF ALDP IN SPANISH KINDREDS
Authors: RUIZ R COLL MJ PAMPOLS T GIROS M
Citation: R. Ruiz et al., X-LINKED ADRENOLEUKODYSTROPHY - PHENOTYPE DISTRIBUTION AND EXPRESSIONOF ALDP IN SPANISH KINDREDS, American journal of medical genetics, 76(5), 1998, pp. 424-427
ALDP EXPRESSION IN FETAL CELLS AND ITS APPLICATION IN PRENATAL-DIAGNOSIS OF X-LINKED ADRENOLEUKODYSTROPHY
Authors: RUIZ M COLL MJ PAMPOLS T GIROS M
Citation: M. Ruiz et al., ALDP EXPRESSION IN FETAL CELLS AND ITS APPLICATION IN PRENATAL-DIAGNOSIS OF X-LINKED ADRENOLEUKODYSTROPHY, Prenatal diagnosis, 17(7), 1997, pp. 651-656
IDENTIFICATION OF 2 NEW NONSENSE MUTATIONS (Q311X AND W326X) IN EXON-2 OF THE ADRENOLEUKODYSTROPHY (ALD) GENE
Authors: BARCELO A GIROS M ALBIACH VJ VAQUERIZO J PAMPOLS T ESTIVILL X
Citation: A. Barcelo et al., IDENTIFICATION OF 2 NEW NONSENSE MUTATIONS (Q311X AND W326X) IN EXON-2 OF THE ADRENOLEUKODYSTROPHY (ALD) GENE, Human mutation, 8(3), 1996, pp. 286-287
GLYCEROL TRIOLEATE GLYCEROL TRIERUCATE THERAPY IN X-LINKED ADRENOLEUKODYSTROPHY - SATURATED AND UNSATURATED FATTY-ACIDS IN BLOOD-CELLS - IMPLICATIONS FOR THE FOLLOW-UP/
Authors: RUIZ M PAMPOLS T GIROS M
Citation: M. Ruiz et al., GLYCEROL TRIOLEATE GLYCEROL TRIERUCATE THERAPY IN X-LINKED ADRENOLEUKODYSTROPHY - SATURATED AND UNSATURATED FATTY-ACIDS IN BLOOD-CELLS - IMPLICATIONS FOR THE FOLLOW-UP/, Journal of inherited metabolic disease, 19(2), 1996, pp. 188-192
DE-NOVO MISSENSE MUTATION Y174S IN EXON-1 OF THE ADRENOLEUKODYSTROPHY(ALD) GENE
Authors: BARCELO A GIROS M SARDE CO PINTOS G MANDEL JL PAMPOLS T ESTIVILL X
Citation: A. Barcelo et al., DE-NOVO MISSENSE MUTATION Y174S IN EXON-1 OF THE ADRENOLEUKODYSTROPHY(ALD) GENE, Human genetics, 95(2), 1995, pp. 235-237
IMMUNOLOCALIZATION OF A 43 KDA PEROXISOMAL MEMBRANE-PROTEIN IN THE LIVER OF PATIENTS WITH GENERALIZED PEROXISOMAL DISORDERS
Authors: ESPEEL M ROELS F GIROS M MANDEL H PELTIER A POGGI F POLLTHE BT SMEITINK JAM VANMALDERGEM L SANTOS MJ
Citation: M. Espeel et al., IMMUNOLOCALIZATION OF A 43 KDA PEROXISOMAL MEMBRANE-PROTEIN IN THE LIVER OF PATIENTS WITH GENERALIZED PEROXISOMAL DISORDERS, European journal of cell biology, 67(4), 1995, pp. 319-327
IDENTIFICATION OF A NEW FRAMESHIFT MUTATION (1801DELAG) IN THE ALD GENE
Authors: BARCELO A GIROS M SARDE CO MARTINEZBERMEJO A MANDEL JL PAMPOLS T ESTIVILL X
Citation: A. Barcelo et al., IDENTIFICATION OF A NEW FRAMESHIFT MUTATION (1801DELAG) IN THE ALD GENE, Human molecular genetics, 3(10), 1994, pp. 1889-1890
DIAGNOSIS OF X-ADRENOLEUKODYSTROPHY PHENOTYPIC VARIANTS
Authors: CORIA F GARCIAVIEJO MA DELGADO JA DUARTE J CLAVERIA LE GIROS M PAMPOLS T
Citation: F. Coria et al., DIAGNOSIS OF X-ADRENOLEUKODYSTROPHY PHENOTYPIC VARIANTS, Acta neurologica Scandinavica, 87(6), 1993, pp. 499-502
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