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Results: 1-16 |
Results: 16
SALLA-DISEASE - RARE OR UNDERDIAGNOSED
Authors: ROBINSON RO FENSOM AH LAKE BD
Citation: Ro. Robinson et al., SALLA-DISEASE - RARE OR UNDERDIAGNOSED, Developmental Medicine and Child Neurology, 39(3), 1997, pp. 153-157
ASYMPTOMATIC CHOLESTERYL ESTER STORAGE DISEASE IN AN ADULT CONTROLLEDWITH SIMVASTATIN
Authors: IVERSON SA CAIRNS SR WARD CP FENSOM AH
Citation: Sa. Iverson et al., ASYMPTOMATIC CHOLESTERYL ESTER STORAGE DISEASE IN AN ADULT CONTROLLEDWITH SIMVASTATIN, Annals of clinical biochemistry, 34, 1997, pp. 433-436
THE ENTRAPMENT OF MANNOSE-TERMINATED GLUCOCEREBROSIDASE (ALGLUCERASE)IN HUMAN CARRIER ERYTHROCYTES
Authors: BAX BE BAIN MD WARD CP FENSOM AH CHALMERS RA
Citation: Be. Bax et al., THE ENTRAPMENT OF MANNOSE-TERMINATED GLUCOCEREBROSIDASE (ALGLUCERASE)IN HUMAN CARRIER ERYTHROCYTES, Biochemical Society transactions, 24(3), 1996, pp. 441-441
COCULTIVATION OF NIEMANN-PICK DISEASE TYPE-C FIBROBLASTS BELONGING TOCOMPLEMENTATION GROUP-ALPHA AND GROUP-BETA STIMULATES LDL-DERIVED CHOLESTEROL ESTERIFICATION
Authors: STEINBERG SJ MONDAL D FENSOM AH
Citation: Sj. Steinberg et al., COCULTIVATION OF NIEMANN-PICK DISEASE TYPE-C FIBROBLASTS BELONGING TOCOMPLEMENTATION GROUP-ALPHA AND GROUP-BETA STIMULATES LDL-DERIVED CHOLESTEROL ESTERIFICATION, Journal of inherited metabolic disease, 19(6), 1996, pp. 769-774
SINGLE-BASE DELETION IN EXON-7 OF THE GLYCOSYLASPARAGINASE GENE CAUSES A MILD FORM OF ASPARTYLGLYCOSAMINURIA IN A PATIENT OF MAURITIAN ORIGIN
Authors: PARK H ROSSITER M FENSOM AH WINCHESTER B ARONSON NN
Citation: H. Park et al., SINGLE-BASE DELETION IN EXON-7 OF THE GLYCOSYLASPARAGINASE GENE CAUSES A MILD FORM OF ASPARTYLGLYCOSAMINURIA IN A PATIENT OF MAURITIAN ORIGIN, Journal of inherited metabolic disease, 19(1), 1996, pp. 76-83
COMPLEMENTATION ANALYSIS IN PATIENTS WITH THE CLINICAL PHENOTYPE OF AGENERALIZED PEROXISOMAL DISORDER
Authors: STEINBERG SJ FENSOM AH
Citation: Sj. Steinberg et Ah. Fensom, COMPLEMENTATION ANALYSIS IN PATIENTS WITH THE CLINICAL PHENOTYPE OF AGENERALIZED PEROXISOMAL DISORDER, Journal of Medical Genetics, 33(4), 1996, pp. 295-299
A SIMPLE METHOD FOR SCREENING FOR FARBER-DISEASE ON CULTURED SKIN FIBROBLASTS
Authors: CHATELUT M FEUNTEUN J HARZER K FENSOM AH BASILE JP SALVAYRE R LEVADE T
Citation: M. Chatelut et al., A SIMPLE METHOD FOR SCREENING FOR FARBER-DISEASE ON CULTURED SKIN FIBROBLASTS, Clinica chimica acta, 245(1), 1996, pp. 61-71
SULFATIDE AND SPHINGOMYELIN LOADING OF LIVING CELLS AS TOOLS FOR THE STUDY OF CERAMIDE TURNOVER BY LYSOSOMAL CERAMIDASE - IMPLICATIONS FOR THE DIAGNOSIS OF FARBER-DISEASE
Authors: LEVADE T TEMPESTA MC MOSER HW FENSOM AH HARZER K MOSER AB SALVAYRE R
Citation: T. Levade et al., SULFATIDE AND SPHINGOMYELIN LOADING OF LIVING CELLS AS TOOLS FOR THE STUDY OF CERAMIDE TURNOVER BY LYSOSOMAL CERAMIDASE - IMPLICATIONS FOR THE DIAGNOSIS OF FARBER-DISEASE, Biochemical and molecular medicine, 54(2), 1995, pp. 117-125
PRENATAL-DIAGNOSIS OF THE UREA CYCLE DISEASES - A SURVEY OF THE EUROPEAN CASES
Authors: KAMOUN P FENSOM AH SHIN YS BAKKER E COLOMBO JP MUNNICH A BIRD S CANINI S HUIJMANS JGM CHADEFAUXVEKEMANS B WHITFIELD AE KLEIJER WJ
Citation: P. Kamoun et al., PRENATAL-DIAGNOSIS OF THE UREA CYCLE DISEASES - A SURVEY OF THE EUROPEAN CASES, American journal of medical genetics, 55(2), 1995, pp. 247-250
NEURODEGENERATIVE COURSE IN CERAMIDASE DEFICIENCY (FARBER-DISEASE) CORRELATES WITH THE RESIDUAL LYSOSOMAL CERAMIDE TURNOVER IN CULTURED LIVING PATIENT CELLS
Authors: LEVADE T MOSER HW FENSOM AH HARZER K MOSER AB SALVAYRE R
Citation: T. Levade et al., NEURODEGENERATIVE COURSE IN CERAMIDASE DEFICIENCY (FARBER-DISEASE) CORRELATES WITH THE RESIDUAL LYSOSOMAL CERAMIDE TURNOVER IN CULTURED LIVING PATIENT CELLS, Journal of the neurological sciences, 134(1-2), 1995, pp. 108-114
RECENT ADVANCES IN THE PRENATAL-DIAGNOSIS OF THE MUCOPOLYSACCHARIDOSES
Authors: FENSOM AH BENSON PF
Citation: Ah. Fensom et Pf. Benson, RECENT ADVANCES IN THE PRENATAL-DIAGNOSIS OF THE MUCOPOLYSACCHARIDOSES, Prenatal diagnosis, 14(1), 1994, pp. 1-12
MEASUREMENT OF PLASMA VERY LONG-CHAIN FATTY-ACIDS AS A PRELIMINARY SCREENING-PROCEDURE FOR THE DIAGNOSIS OF PEROXISOMAL DISORDERS
Authors: STEINBERG SJ FENSOM AH DALTON NR TOSELAND PA KENNEDY CR MOWAT AP
Citation: Sj. Steinberg et al., MEASUREMENT OF PLASMA VERY LONG-CHAIN FATTY-ACIDS AS A PRELIMINARY SCREENING-PROCEDURE FOR THE DIAGNOSIS OF PEROXISOMAL DISORDERS, Journal of inherited metabolic disease, 17(3), 1994, pp. 323-326
X-LINKED ADRENOLEUKODYSTROPHY WITH NONDIAGNOSTIC PLASMA VERY LONG-CHAIN FATTY-ACIDS
Authors: KENNEDY CR ALLEN JT FENSOM AH STEINBERG SJ WILSON R
Citation: Cr. Kennedy et al., X-LINKED ADRENOLEUKODYSTROPHY WITH NONDIAGNOSTIC PLASMA VERY LONG-CHAIN FATTY-ACIDS, Journal of Neurology, Neurosurgery and Psychiatry, 57(6), 1994, pp. 759-761
COMPLEMENTATION STUDIES IN NIEMANN-PICK DISEASE TYPE-C INDICATE THE EXISTENCE OF A 2ND GROUP
Authors: STEINBERG SJ WARD CP FENSOM AH
Citation: Sj. Steinberg et al., COMPLEMENTATION STUDIES IN NIEMANN-PICK DISEASE TYPE-C INDICATE THE EXISTENCE OF A 2ND GROUP, Journal of Medical Genetics, 31(4), 1994, pp. 317-320
FURTHER INVESTIGATION OF THE HEXA GENE INTRON-9 DONOR SPLICE-SITE MUTATION FREQUENTLY FOUND IN NON-JEWISH TAY-SACHS-DISEASE PATIENTS FROM THE BRITISH-ISLES
Authors: LANDELS EC GREEN PM ELLIS IH FENSOM AH KABACK MM LIMSTEELE J ZEIGER K LEVY N BOBROW M
Citation: Ec. Landels et al., FURTHER INVESTIGATION OF THE HEXA GENE INTRON-9 DONOR SPLICE-SITE MUTATION FREQUENTLY FOUND IN NON-JEWISH TAY-SACHS-DISEASE PATIENTS FROM THE BRITISH-ISLES, Journal of Medical Genetics, 30(6), 1993, pp. 479-481
A MILD FORM OF MUCOLIPIDOSIS TYPE-III IN 4 BALUCH SIBLINGS
Authors: WARD C SINGH R SLADE C FENSOM AH FAHMY A SEMRIN A SJOVALL A TALAT A HASILIK A KLEIN I BENSON PF
Citation: C. Ward et al., A MILD FORM OF MUCOLIPIDOSIS TYPE-III IN 4 BALUCH SIBLINGS, Clinical genetics, 44(6), 1993, pp. 313-319
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