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Results: 1-12 |
Results: 12
PULMONARY MANIFESTATIONS OF GAUCHER-DISEASE - AN INCREASED RISK FOR L444P HOMOZYGOTES
Authors: SANTAMARIA F PARENTI G GUIDI G FILOCAMO M STRISCIUGLIO P GRILLO G FARINA V SARNELLI P RIZZOLO MG ROTONDO A ANDRIA G
Citation: F. Santamaria et al., PULMONARY MANIFESTATIONS OF GAUCHER-DISEASE - AN INCREASED RISK FOR L444P HOMOZYGOTES, American journal of respiratory and critical care medicine, 157(3), 1998, pp. 985-989
A 9-BP DELETION (2320DEL9) ON THE BACKGROUND OF THE ARYLSULFATASE-A PSEUDODEFICIENCY ALLELE IN A METACHROMATIC LEUKODYSTROPHY PATIENT AND IN A PATIENT WITH NONPROGRESSIVE NEUROLOGICAL SYMPTOMS
Authors: REGIS S FILOCAMO M STROPPIANO M CORSOLINI F CAROLI F GATTI R
Citation: S. Regis et al., A 9-BP DELETION (2320DEL9) ON THE BACKGROUND OF THE ARYLSULFATASE-A PSEUDODEFICIENCY ALLELE IN A METACHROMATIC LEUKODYSTROPHY PATIENT AND IN A PATIENT WITH NONPROGRESSIVE NEUROLOGICAL SYMPTOMS, Human genetics, 102(1), 1998, pp. 50-53
A DELETION INVOLVING EXON-2-EXON-4 IN THE IDURONATE-2-SULFATASE GENE OF A PATIENT WITH INTERMEDIATE HUNTER-SYNDROME
Authors: BONUCCELLI G REGIS S FILOCAMO M CORSOLINI F CAROLI F GATTI R
Citation: G. Bonuccelli et al., A DELETION INVOLVING EXON-2-EXON-4 IN THE IDURONATE-2-SULFATASE GENE OF A PATIENT WITH INTERMEDIATE HUNTER-SYNDROME, Clinical genetics, 53(6), 1998, pp. 474-477
A NOVEL MUTATION OF THE BETA-GLUCOCEREBROSIDASE GENE ASSOCIATED WITH NEUROLOGIC MANIFESTATIONS IN 3 SIBS
Authors: PARENTI G FILOCAMO M TITOMANLIO L RIZZOLO G SILVESTRO E PERRETTI A GATTI R ANDRIA G
Citation: G. Parenti et al., A NOVEL MUTATION OF THE BETA-GLUCOCEREBROSIDASE GENE ASSOCIATED WITH NEUROLOGIC MANIFESTATIONS IN 3 SIBS, Clinical genetics, 53(4), 1998, pp. 281-285
MUTATIONS AMONG ITALIAN MUCOPOLYSACCHARIDOSIS TYPE-I PATIENTS
Authors: GATTI R DINATALE P VILLANI GRD FILOCAMO M MULLER V GUO XH NELSON PV SCOTT HS HOPWOOD JJ
Citation: R. Gatti et al., MUTATIONS AMONG ITALIAN MUCOPOLYSACCHARIDOSIS TYPE-I PATIENTS, Journal of inherited metabolic disease, 20(6), 1997, pp. 803-806
A T-GREATER-THAN-C TRANSITION CAUSING A LEU-GREATER-THAN-PRO SUBSTITUTION IN A CONSERVED REGION OF THE ARYLSULFATASE-A GENE IN A LATE INFANTILE METACHROMATIC LEUKODYSTROPHY PATIENT
Authors: REGIS S FILOCAMO M STROPPIANO M CORSOLINI F GATTI R
Citation: S. Regis et al., A T-GREATER-THAN-C TRANSITION CAUSING A LEU-GREATER-THAN-PRO SUBSTITUTION IN A CONSERVED REGION OF THE ARYLSULFATASE-A GENE IN A LATE INFANTILE METACHROMATIC LEUKODYSTROPHY PATIENT, Clinical genetics, 52(1), 1997, pp. 65-67
MOLECULAR ANALYSIS OF THE ARYLSULFATASE-A GENE IN LATE INFANTILE METACHROMATIC LEUKODYSTROPHY PATIENTS AND HEALTHY-SUBJECTS FROM ITALY
Authors: REGIS S FILOCAMO M STROPPIANO M CORSOLINI F GATTI R
Citation: S. Regis et al., MOLECULAR ANALYSIS OF THE ARYLSULFATASE-A GENE IN LATE INFANTILE METACHROMATIC LEUKODYSTROPHY PATIENTS AND HEALTHY-SUBJECTS FROM ITALY, Journal of Medical Genetics, 33(3), 1996, pp. 251-252
AN AT-DELETION CAUSING A FRAMESHIFT IN THE ARYLSULFATASE-A GENE OF A LATE INFANTILE METACHROMATIC LEUKODYSTROPHY PATIENT
Authors: REGIS S CARROZZO R FILOCAMO M SERRA G MASTROPAOLO C GATTI R
Citation: S. Regis et al., AN AT-DELETION CAUSING A FRAMESHIFT IN THE ARYLSULFATASE-A GENE OF A LATE INFANTILE METACHROMATIC LEUKODYSTROPHY PATIENT, Human genetics, 96(2), 1995, pp. 233-235
A RARE G6490-]A SUBSTITUTION AT THE LAST NUCLEOTIDE OF EXON-10 OF THEGLUCOCEREBROSIDASE GENE IN 2 UNRELATED ITALIAN GAUCHER PATIENTS
Authors: SERI M FILOCAMO M CORSOLINI F BEMBI B BARBERA C GATTI R
Citation: M. Seri et al., A RARE G6490-]A SUBSTITUTION AT THE LAST NUCLEOTIDE OF EXON-10 OF THEGLUCOCEREBROSIDASE GENE IN 2 UNRELATED ITALIAN GAUCHER PATIENTS, Clinical genetics, 48(3), 1995, pp. 123-127
A MISSENSE MUTATION (S63L) IN ALPHA-L-FUCOSIDASE IS RESPONSIBLE FOR FUCOSIDOSIS IN AN ITALIAN PATIENT
Authors: SEO HC YANG MH TONLORENZI R WILLEMS PJ KIM AH FILOCAMO M GATTI R DICIOCCIO RA OBRIEN JS
Citation: Hc. Seo et al., A MISSENSE MUTATION (S63L) IN ALPHA-L-FUCOSIDASE IS RESPONSIBLE FOR FUCOSIDOSIS IN AN ITALIAN PATIENT, Human molecular genetics, 3(11), 1994, pp. 2065-2066
SJOGREN-LARSSON SYNDROME - NUCLEAR-MAGNETIC-RESONANCE IMAGING OF THE BRAIN IN A 4-YEAR-OLD BOY
Authors: DIROCCO M FILOCAMO M TORTORIDONATI P VENESELLI E BORRONE C RIZZO WB
Citation: M. Dirocco et al., SJOGREN-LARSSON SYNDROME - NUCLEAR-MAGNETIC-RESONANCE IMAGING OF THE BRAIN IN A 4-YEAR-OLD BOY, Journal of inherited metabolic disease, 17(1), 1994, pp. 112-114
BONE-MARROW TRANSPLANTATION IN THALASSEMI A
Authors: LUCARELLI G GALIMBERTI M POLCHI P ANGELUCCI E BARONCIANI D GIARDINI C DURAZZI SMT AGOSTINELLI F GIORGI C DONATI M PARADISI O FILOCAMO M BIAGI M BALDI A BARTOLUCCI M BARBANTI I MURETTO P BALDASSARI M MARTINELLI F GAZIEV JG
Citation: G. Lucarelli et al., BONE-MARROW TRANSPLANTATION IN THALASSEMI A, Gematologia i transfuziologia, 38(8), 1993, pp. 7-11
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