kw.\*:("SPHINGOLIPIDOSIS")
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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
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
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
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
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
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
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
FORME INFANTILE, PRECOCE, CHOLESTATIQUE, RAPIDEMENT MORTELLE, DE LA SPHINGOMYELINOSE TYPE CGUIBAUD P; VANIER MT; MALPUECH G et al.1979; PEDIATRIE; FRA; DA. 1979; VOL. 24; NO 2; PP. 103-114; ABS. ENG; BIBL. 1 P.Article
SPHINGOLIPIDOSENNEUHAUSER G.1979; Z. ALLG.-MED.; DEU; DA. 1979; VOL. 55; NO 33; PP. 1922-1924; BIBL. 4 REF.Article
LEUCODYSTROPHIE METACHROMATIQUE DE L'ADULTE.DE MULDER C; MARTIN JJ.1978; ACTA NEUROL. BELG.; BEL; DA. 1978; VOL. 78; NO 3; PP. 162-166; ABS. ENG; BIBL. 14 REF.Article
PATHOBIOCHEMISCHE ASPEKTE LYSOSOMALER ENZYME UNTER BESONDERER BERUECKSICHTIGUNG LYSOSOMALER SPEICHERKRANKHEITEN. = ASPECTS PATHOBIOCHIMIQUES DES ENZYMES LYSOSOMALES EN CONSIDERANT PARTICULIEREMENT LES THESAURISMOSES LYSOSOMALESKRESSE H.1978; WIEN. KLIN. WSCHR.; OESTERR.; DA. 1978; VOL. 90; NO 10; PP. 325-332; ABS. ANGL.; BIBL. 2 P. 1/2Article
ATYPICAL JUVENILE NEUROLIPIDOSIS. ULTRASTRUCTURAL STUDY OF A CEREBRAL BIOPSYALEXIANU M; OANCEA C; PETROVICI A et al.1978; EUROP. NEUROL.; CHE; DA. 1978; VOL. 17; NO 4; PP. 233-238; BIBL. 7 REF.Article
VERY LOW ARYLSULFATASE A AND CEREBROSIDE SULFATASE ACTIVITIES IN LEUKOCYTES OF HEALTHY MEMBERS OF METACHROMATIC LEUKODYSTROPHY FAMILY.DUBOIS G; HARZER K; BAUMANN N et al.1977; AMER. J. HUM. GENET.; U.S.A.; DA. 1977; VOL. 29; NO 2; PP. 191-194; BIBL. 8 REF.Article
LES N-ACETYL-BETA -HEXOSAMINIDASES. DONNEES ACTUELLES DE LEUR ETUDE ET CORRELATIONS PATHOLOGIQUES.DHONDT JL; FARRIAUX JP.1977; PATHOL. BIOL.; FR.; DA. 1977; VOL. 25; NO 7; PP. 493-504; ABS. ANGL.; BIBL. 2 P. 1/2Article
LUNGE UND STOFFWECHSEL. = POUMON ET MALADIES METABOLIQUESMORAWETZ F.1977; PRAXIS KLIN. PNEUMOL.; DTSCH.; DA. 1977; VOL. 31; NO 5; PP. 469-475; ABS. ANGL.; BIBL. 5 REF.Article
ISOLATION OF ACIDIC GLYCOPEPTIDES FROM URINE BY MEANS OF ANION-EXCHANGE RESINS. APPLICATION TO SOME CASES OF GLYCOSPHINGOLIPIDOSIS OR MUCOLIPIDOSIS.CALATRONI A; TIRA ME.1976; CLIN. CHIM. ACTA; PAYS-BAS; DA. 1976; VOL. 71; NO 2; PP. 137-141; BIBL. 14 REF.Article