DIFFERENTIALDIAGNOSE ANGEBORENER LIPIDOSEN DURCH LIPIDANALYSEN VON KOERPERFLUESSIGKEITEN, BIOPSIE- UND AUTOPSIEGEWEBE. = DIAGNOSTIC DIFFERENTIEL DES LIPIDOSES HEREDITAIRES PAR L'ANALYSE LIPIDIQUE DES LIQUIDES ORGANIQUES, DE LA BIOPSIE ET DES TISSUS PRELEVES A L'AUTOPSIEPILZ H; HEIPERTZ R.1975; FORTSCHR. NEUROL. PSYCHIATR. GRENZGEB.; DTSCH.; DA. 1975; VOL. 43; NO 11; PP. 602-617; BIBL. 2 P. 1/2Article

BIOCHEMICAL AND METABOLIC BASIS OF FAMILIAL SPHINGOLIPIDOSES = LES BASES BIOCHIMIQUES ET METABOLIQUES DES SPHINGOLIPIDOSES FAMILIALESBRADY RO.1972; SEMINARS HEMATOL.; U.S.A.; DA. 1972; VOL. 9; NO 3; PP. 273-284; BIBL. 2P.Serial Issue

ENZYMOLOGICAL APPROACHES TO THE LIPIDOSES.BRADY RO.1977; ANN. CLIN. LAB. SCI.; U.S.A.; DA. 1977; VOL. 7; NO 2; PP. 105-112; BIBL. 2 P.Article

UN CASO DI GANGLIOSIDOSI GM₂. VARIANTE AB ATIPICA. = UN CAS DE GANGLIOSIDOSE GM2. FORME ATYPIQUE DE LA VARIANTE ABALLEGRANZA A; GRISONI R; BALESTRINI MR et al.1977; RIV. PATOL. NERV. MENTALE; ITA; DA. 1977; VOL. 98; NO 2; PP. 65-87; ABS. ANGL.; BIBL. 1 P.Article

A STUDY OF HEXOSAMINIDASES IN INTERSPECIFIC HYBRIDS AND IN GM₂ GANGLIOSIDOSIS WITH A DISCUSSION ON THEIR GENETIC CONTROLNGUYEN VAN CONG; WEIL D; REBOURCET R et al.1975; ANN. HUM. GENET.; G.B.; DA. 1975; VOL. 30; NO 1; PP. 111-123; BIBL. 1 P. 1/2Article

AN ENZYMOLOGICAL APPROACH TO THE LIPIDOSESTALLMAN JF; PENTCHEV PG; BRADY RO et al.1974; ENZYME; SWITZ.; DA. 1974; VOL. 18; NO 12; PP. 136-149; BIBL. 4P.Article

ACID HYDROLASES IN LEUKOCYTES AND PLATELETS OF NORMAL SUBJECTS AND IN PATIENTS WITH GAUCHER'S AND FABRY'S DISEASEBEUTLER E; KUHL W; MATSUMOTO F et al.1976; J. EXPER. MED.; U.S.A.; DA. 1976; VOL. 143; NO 4; PP. 975-980; BIBL. 12 REF.Article

INVESTIGATIONS IN ENZYME REPLACEMENT THERAPY IN LIPID STORAGE DISEASESBRADY RO; PENTCHEV PG; GAL AE et al.1975; FEDER. PROC.; U.S.A.; DA. 1975; VOL. 34; NO 5; PP. 1310-1315; BIBL. 35REF.Serial Issue

CONTRIBUTION A L'ETUDE GENETIQUE DES GANGLIOSIDOSES GM₂ (TAY-SACHS ET SANDHOFF) PAR L'ETUDE DES HEXOSAMINIDASES DES HYBRIDES SANDHOFF-RONGEURS (SOURIS ET HAMSTER).WEIL D; NGUYEN VAN CONG; REBOURCET R et al.1975; ANN. GENET.; FR.; DA. 1975; VOL. 18; NO 3; PP. 163-168; ABS. ANGL.; BIBL. 30 REF.Article

THE PATHOLOGY OF SPHINGOLIPIDOSES = LA PATHOLOGIE DES SPHINGOLIPIDOSESVOLK BW; ADACHI M; SCHNECK L et al.1972; SEMINARS HEMATOL.; U.S.A.; DA. 1972; VOL. 9; NO 3; PP. 317-348; BIBL. 9P.Serial Issue

INCREASED CEREBROSIDE CONCENTRATION IN PLASMA AND ERYTHROCYTES IN GAUCHER DISEASE: SIGNIFICANT DIFFERENCES BETWEEN TYPE I AND TYPE IIINILSSON O; HAKANSSON G; DREBORG S et al.1982; CLINICAL GENETICS; ISSN 0009-9163; DNK; DA. 1982; VOL. 22; NO 5; PP. 274-279; BIBL. 19 REF.Article

ISOELECTRIC ENZYME PATTERNS OF LEUKOCYTE PEROXIDASE IN NORMAL CONTROLS AND PATIENTS WITH NEURONAL CEROID-LIPOFUSCINOSES.PILZ H; GOEBEL HH; O'BRIEN JS et al.1976; NEUROPAEDIATRIE; DTSCH.; DA. 1976; VOL. 7; NO 3; PP. 261-270; ABS. ALLEM.; BIBL. 21 REF.Article

MALADIES HEREDITAIRES DU METABOLISME DES MUCOPOLYSACCHARIDES, GLYCOPROTEINES ET SPHINGOLIPIDES. III: SPHINGOLIPIDOSESSALVAYRE R.1980; REV. MED. TOULOUSE; FRA; DA. 1980; VOL. 16; NO 3; PP. 127-139; BIBL. 40 REF.Article

CULTURE CELLULAIRE DE LIQUIDE AMNIOTIQUE POUR LE DEPISTAGE PRENATAL DE MALADIES METABOLIQUESZOLOTUKHINA TV; TSVETKOVA IV.1980; BJULL. EKSPER. BIOL. MED.; SUN; DA. 1980; VOL. 89; NO 3; PP. 344-346; ABS. ENG; BIBL. 12 REF.Article

HUMAN LEUKOCYTE PEROXIDASE: ACTIVITY OF A SOLUBLE AND MEMBRANE BOUND ENZYME FORM IN NORMAL PERSONS AND PATIENTS WITH NEURONAL CEROID-LIPOFUSCINOSIS.PILZ H; O'BRIEN JS; HEIPERTZ R et al.1976; METABOLISM; U.S.A.; DA. 1976; VOL. 25; NO 5; PP. 561-570; BIBL. 1 P. 1/2Article

SEGREGATION OF TAY-SACHS AND SANDHOFF ALLELES IN A NON-JEWISH FAMILYLANE AB; YOUNG E; JENKINS T et al.1980; AM. J. HUM. GENET.; ISSN 0002-9297; USA; DA. 1980; VOL. 32; NO 6; PP. 920-926; BIBL. 17 REF.Article

SERUM BETA -HEXOSAMINIDASES IN PREGNANCYLOWDEN JA.1979; CLIN. CHIM. ACTA; NLD; DA. 1979; VOL. 93; NO 3; PP. 409-417; BIBL. 18 REF.Article

ENZYMATIC TRANSPLANTATION1973; SOUTH. MED. J.; U.S.A.; DA. 1973; VOL. 66; NO 3; PP. 289-291; BIBL. 15REF.Serial Issue

ENZYME TRANSPLANTS = TRANSPLANTATIONS ENZYMATIQUES1972; LANCET; G.B.; DA. 1972; NO 7789; PP. 1235-1236; BIBL. 19 REF.Serial Issue

ELECTRON MICROSCOPIC STUDIES IN LIPID STORAGE DISEASELUDATSCHER RM; NAVEH Y; AUSLAENDER L et al.1981; ISR. J. MED. SCI.; ISSN 0021-2180; ISR; DA. 1981; VOL. 17; NO 5; PP. 323-330; BIBL. 18 REF.Article

ENZYME REPLACEMENT THERAPY IN GAUCHER'S AND FABRY'S DISEASE.PENTCHEV PG.1977; ANN. CLIN. LAB. SCI.; U.S.A.; DA. 1977; VOL. 7; NO 3; PP. 251-253; BIBL. 5 REF.Article

CHARACTERIZATION AND TISSUE DISTRIBUTION OF N-ACETYL HEXOSAMINIDASE C: SUGGESTIVE EVIDENCE FOR A SEPARATE HEXOSAMINIDASE LOCUS.SWALLOW DM; EVANS L; SAHA N et al.1976; ANN. HUM. GENET.; G.B.; DA. 1976; VOL. 40; NO 1; PP. 55-66; BIBL. 23 REF.Article

IMPAIRED DEGRADATION OF CHONDROITIN SULFATE IN GM₂-GANGLIOSIDOSISYUTAKA T; KATO T; OKADA S et al.1982; CLINICAL GENETICS; ISSN 0009-9163; DNK; DA. 1982; VOL. 22; NO 4; PP. 165-171; BIBL. 16 REF.Article

NIEMANN-PICK DISEASE, TYPE C: EVIDENCE FOR THE DEFICIENCY OF AN ACTIVATING FACTOR STIMULATING SPHINGOMYELIN AND GLUCOCEREBROSIDE DEGRADATIONCHRISTOMANOU H.1980; HOPPE-SEYLER Z. PHYSIOL. CHEM.; ISSN 0018-4888; DEU; DA. 1980; VOL. 361; NO 10; PP. 1489-1502; ABS. GER; BIBL. 40 REF.Article

DETECTION OF G_M2-GANGHOSIDOSIS (TAY-SACHS AND SANDHOFF DISEASE) GENE CARRIERS BY SERUM HEXOSAMINIDASE ASSAY.MOLZER B; BERNHEIMER H.1976; CLIN. CHIM. ACTA; PAYS-BAS; DA. 1976; VOL. 73; NO 1; PP. 163-169; BIBL. 22 REF.Article