kw.\*:("Sphingolipidosis")
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Isocortical pathology in type C Niemann-Pick disease. A combined Golgi-pigmentoarchitectonic studyBRAAK, H; BRAAK, E; GOEBEL, H. H et al.Journal of neuropathology and experimental neurology. 1983, Vol 42, Num 6, pp 671-687, issn 0022-3069Article
Enfermedades hereditarias lisosomales en México. III, Diagnóstico de laboratorio para esfingolipidosisELENA ZETINA, M; GONZALEZ-NORIEGA, A.Revista de investigacion clinica. 1991, Vol 43, Num 1, pp 52-60, issn 0034-8376Article
Maladie de Fabry = Fabry disease. An updatePORNEUF, M; SOTTO, A; PERRIN, P et al.La Semaine des hôpitaux de Paris. 1993, Vol 69, Num 21, pp 634-638, issn 0037-1777Article
ENZYMATIC ASPECTS OF THE LIPID STORAGE DISEASES.1978; ADV. EXPER. MED. BIOL.; U.S.A.; DA. 1978; VOL. 101; PP. 689-764; BIBL. DISSEM.; (MEET. ENZYMES LIPID METAB. PROC.; MONT STE-ODILE; 1977)Conference Paper
NIEMANN-PICK DISEASE: REPORT OF A CASE WITH SKIN INVOLVEMENTMARDINI MK; GERGEN P; MOHAMMED AKHTAR et al.1982; AMERICAN JOURNAL OF DISEASES OF CHILDREN; ISSN 0002-922X; USA; DA. 1982; VOL. 136; NO 7; PP. 650-651; BIBL. 6 REF.Article
Prenatal diagnosis of lysosomal storage diseases: review of experience in 145 patients referrals over a period of eight yearsCAREY, W. F; HOPWOOD, J. J; POULOS, A et al.Medical journal of Australia. 1984, Vol 140, Num 4, pp 203-208, issn 0025-729XArticle
Studies on lipids from liver and spleen of a child (O. L.) with Niemann-Pick's disease type CHARDER, A; WIDJAJA, F; DEBUCH, H et al.Journal of clinical chemistry and clinical biochemistry. 1984, Vol 22, Num 2, pp 199-201, issn 0340-076XArticle
Lysosomal storage diseasesBRADY, R. O.Pharmacology & therapeutics (Oxford). 1982, Vol 19, Num 3, pp 327-336, issn 0163-7258Article
Peripheral neuropathy in type A Niemann-Pick diseaseLANDRIEU, P; SAÏD, G.Acta neuropathologica. 1984, Vol 63, Num 1, pp 66-71, issn 0001-6322Article
THE BIOCHEMICAL GENETICS OF THE HEXOSAMINIDASE SYSTEM IN MANBEUTLER E.1979; AMER. J. HUM. GENET.; USA; DA. 1979; VOL. 31; NO 2; PP. 95-105; BIBL. 74 REF.Article
MALADIES HEREDITAIRES DU METABOLISME DES MUCOPOLYSACCHARIDES, GLYCOPROTEINES ET SPHINGOLIPIDES. I: ANOMALIES BIOCHIMIQUESSALVAYRE R; THOUVENOT JP; DOUJTE BLAZY L et al.1979; REV. MED. TOULOUSE; FRA; DA. 1979; VOL. 15; NO 8; PP. 471-482; ABS. ENG; BIBL. 58 REF.Article
THE CLINICAL CLASSIFICATION OF CEROID-LIPOFASCINOSIS. A STATISTICAL APPROACH.REY PIAS JM; MORALES C; SERRATE A et al.1976; ARCH. SUISSES NEUROL. NEUROCHIR. PSYCHIATR.; SUISSE; DA. 1976; VOL. 119; NO 1; PP. 19-29; ABS. ALLEM. FR.; BIBL. 1 P. 1/2Article
ENZYMES IN AMNIOTIC FLUID.WATKINS BF; BERMES EW.1977; ANN. CLIN. LAB. SCI.; U.S.A.; DA. 1977; VOL. 7; NO 3; PP. 231-240; BIBL. 1 P. 1/2Article
DE L'ANATOMIE PATHOLOGIQUE DES NEUROLIPIDOSESKOZAKOVA PB; KHOKHRINA NT; KALMIKOVA LG et al.1978; ZH. NEUROPATOL. PSIKHIATR. S.S. KORSAKOVA; SUN; DA. 1978; VOL. 78; NO 7; PP. 1095-1100; ABS. ENG; BIBL. 20 REF.Article
FAMILY REACTIONS, PHYSICIAN RESPONSES, AND MANAGEMENT ISSUES IN FATAL LIPID STORAGE DISEASES.SCHNEIDERMAN G; LOWDEN JA; RAE GRANT Q et al.1976; CLIN. PEDIATR.; U.S.A.; DA. 1976; VOL. 15; NO 10; PP. 887-890; BIBL. 5 REF.Article
Diagnostic prénatal précoce des enzymopathies lysosomiales à partir de biopsies de trophoblastes = Early ante natal diagnosis of lysosomal diseases by trophoblastic biopsyPOENARU, L; BELON, J. P; BESANCON, A. M et al.Annales de médecine interne (Paris). 1985, Vol 136, Num 5, pp 409-411, issn 0003-410XArticle
Foamy transformed Gaucher cells = Umwandlung von Gaucher-Zellen zu SchaumzellenELLEDER, M.Zentralblatt für Pathologie. 1992, Vol 138, Num 1, pp 47-50, issn 0863-4106Article
Inhibition of calcium-activated, phospholipid-dependent protein kinase (protein kinase C) activity in sphingolipidosesBONEH, A.Journal of inherited metabolic disease. 1991, Vol 14, Num 3, pp 393-396, issn 0141-8955Article
Histochemistry of lipid storage diseasesZUGIBE, F. T.American journal of medical genetics. Supplement. 1987, Num 3, pp 221-226, issn 1040-3787Article
A LYSOSOMAL STORAGE DISORDER IN MICE CHARACTERIZED BY A DUAL DEFICIENCY OF SPHINGOMYELINASE AND GLUCOCEREBROSIDASEPENTCHEV PG; GAL AE; BOOTH AD et al.1980; BIOCHIM. BIOPHYS. ACTA; ISSN 0006-3002; NLD; DA. 1980; VOL. 619; NO 3; PP. 669-679; BIBL. 26 REF.Article
THE ASSAY OF SPINGOLIPID HYDROLASES IN WHITE BLOOD CELLS WITH LABELLED NATURAL SUBSTRATESSVENNERHOLM L; HAKANSSON G; MANSSON JE et al.1979; CLIN. CHIM. ACTA; NLD; DA. 1979; VOL. 92; NO 1; PP. 53-64; BIBL. 19 REF.Article
ERKENNUNG UNHEILBARER, ERBLICHER STOFFWECHSEL-KRANKHEITEN VOR DER GEBURT: PRAENATALE DIAGNOSE VON FETTSTOFFWECHSELSTOERUNGEN = DIAGNOSTIC AVANT LA NAISSANCE DES MALADIES METABOLIQUES, HEREDITAIRES, INCURABLES: DIAGNOSTIC PRENATAL DES TROUBLES DU METABOLISME DES LIPIDESHARZER K.1979; MED. WELT; DEU; DA. 1979; VOL. 30; NO 48; PP. 1810-1816; BIBL. 10 REF.Article
DYSMYELINATION REVISITED.POSER CM.1978; ARCH. NEUROL.; USA; DA. 1978; VOL. 35; NO 7; PP. 401-408; BIBL. 2 P.Article
NEURONAL CEROID-LIPOFUSCINOSIS. STUDIES OF GRANULOCYTE ENZYME ACTIVITIES.MIN FU TSAN; GALE AN; MURPHY EA et al.1978; J. NEUROL. SCI.; NETHERL.; DA. 1978; VOL. 36; NO 1; PP. 13-24; BIBL. 24 REF.Article
A BENIGN DEFICIENCY OF TYPE B BETA -GALACTOSIDASE IN HUMAN LIVER.CHEETHAM PSJ; DANCE NE; ROBINSON D et al.1978; CLIN. CHIM. ACTA; PAYS-BAS; DA. 1978; VOL. 83; NO 1-2; PP. 67-74; BIBL. 21 REF.Article