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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

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

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

EXPERIMENTAL POLYMER STORAGE DISEASE IN RABBITS. AN APPROACH TO THE HISTOGENESIS OF SPHINGOLIPIDOSES = MALADIE EXPERIMENTALE DE STOCKAGE DES POLYMERES CHEZ LE LAPIN. UNE APPROCHE DE L'HISTOGENESE DES SPHINGOLIPIDOSESMIYASAKI K.1975; VIRCHOWS ARCH., A; DTSCH.; DA. 1975; VOL. 365; NO 4; PP. 351-365; 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

Neuronal ceroid lipofuscinosis in The Netherlands. IIPINCKERS, A.Documenta ophthalmologica. 1983, Vol 56, Num 1-2, pp 143-145, issn 0012-4486Article

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

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

TAY-SACHS' AND SANDHOFF'S DISEASES: THE ASSIGNMENT OF GENES FOR HEXOSAMINIDASE A AND B TO INDIVIDUAL HUMAN CHROMOSOMESGILBERT F; KUCHERLAPATI R; CREAGAN RP et al.1975; PROC. NATION. ACAD. SCI. U.S.A.; U.S.A.; DA. 1975; VOL. 72; NO 1; PP. 263-267; BIBL. 18REF.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

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

Fabry's diseaseHQSHOLT, L; WANDALL, A; SOÊRENSEN, S. A et al.Clinical genetics. 1989, Vol 36, Num 5, pp 335-336, issn 0009-9163, 2 p.Conference Paper

MALADIE DE FABRY ET MALADIE DE GAUCHER : CARACTERISATION MOLECULAIRE, CORRELATIONS GENOTYPE/PHENOTYPE ET PERSPECTIVES THERAPEUTIQUES = FABRY DISEASE AND GAUCHER DISEASE : MOLECULAR CHARACTERIZATION, GENOTYPE/PHENOTYPE CORRELATIONS, AND PROSPECT OF THERAPYGermain, Dominique; Poenaru, Livia.1999, 259 p.Thesis

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

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

CHARACTERIZATION OF A VARIANT OF BETA -HEXOSAMINIDASE: "HEXOSAMINIDASE PARIS".DREYFUS JC; POENARU L; VIBERT M et al.1977; AMER. J. HUM. GENET.; U.S.A.; DA. 1977; VOL. 29; NO 3; PP. 287-293; BIBL. 16 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

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

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

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