SIALIDASE (L-N-ACETYL NEURAMINIDASE) DEFICIENCY: THE ENZYME DEFECT IN AN ADULT WITH MACULAR CHERRY-RED SPOTS AND MYOCLONUS WITHOUT DEMENTIA.THOMAS GH; TIPTON RE; CH'IEN LT et al.1978; CLIN. GENET.; DENM.; DA. 1978; VOL. 13; NO 4; PP. 369-379; BIBL. 2 P.Article

CHERRY RED MACULAR DEGENERATION: A CLINICAL MANIFESTATION OF THE DIENCEPHALIC SYNDROME.SAKURA N; HYODO S; MASUDA H et al.1982; ACTA PAEDIATR. SCAND.; ISSN 0001-656X; SWE; DA. 1982; VOL. 71; NO 5; PP. 857-858; BIBL. 7 REF.Article

THE CHERRY RED SPOT-MYOCLONUS SYNDROME: A NEWLY RECOGNIZED INHERITED LYSOSOMAL STORAGE DISEASE DUE TO ACID NEURAMINIDASE DEFICIENCY.O'BRIEN JS.1978; CLIN. GENET.; DNK; DA. 1978; VOL. 14; NO 1; PP. 55-60; BIBL. 13 REF.Article

TRAUMATIC SEROUS DETACHMENTS OF THE RETINAL PIGMENT EPITHELIUM.BEYRER CR.1978; ANN. OPHTHALMOL.; U.S.A.; DA. 1978; VOL. 10; NO 1; PP. 51-54; BIBL. 4 REF.Article

CHERRY-RED SPOT-MYOCLONUS SYNDROME IN A JAPANESE FAMILYKITAGAWA T; OWADA M; SAKIYAMA T et al.1982; J. INHERIT. METAB. DIS.; ISSN 0141-8955; GBR; DA. 1982; VOL. 5; NO 2; PP. 75-76; BIBL. 6 REF.Article

A PROPOS D'UNE NOUVELLE OBSERVATION DE "CHERRY-RED SPOT MYOCLONUS SYNDROME"MARTIN JJ.1980; ACTA NEUROL. BELG.; BEL; DA. 1980; VOL. 80; NO 1; PP. 30-36; ABS. ENG; BIBL. 2 P.Article

CONTENT OF GANGLIOSIDES AND PROTEIN-BOUND SIALIC ACID IN POST-MORTEM BRAIN OF PATIENTS WITH MUCOLIPIDOSIS I AND II (ML I AND II)BERRA B; DI PALMA S; LINDI C et al.1979; CELL. MOLEC. BIOL.; GBR; DA. 1979; VOL. 25; NO 4; PP. 281-284; ABS. FRE; BIBL. 19 REF.Article

FAMILIAL JUVENILE NEURONAL STORAGE DISEASES. NEW DISEASE OR VARIENT OF JUVENILE LIPIDOSISITOYAMA Y; GOTO I; KUROIWA Y et al.1978; ARCH. NEUROL.; USA; DA. 1978; VOL. 35; NO 12; PP. 792-800; BIBL. 32 REF.Article

LUPUS NEPHRITIS IN A NEURONAL STORAGE DISEASE.FEINFELD DA; SCHOLNICK HR; JANIS R et al.1977; ARCH. INTERN. MED.; U.S.A.; DA. 1977; VOL. 137; NO 5; PP. 693-694; BIBL. 7 REF.Article

FUNDAL ABNORMALITIES OF GAUCHER'S DISEASECOGAN DG; CHU FC; GITTINGER J et al.1980; ARCH. OPHTHALMOL.; ISSN 0003-9950; USA; DA. 1980; VOL. 98; NO 12; PP. 2202-2203; BIBL. 13 REF.Article

SIALIDOSIS: DELINEATION OF SUBTYPES BY NEURAMINIDASE ASSAYO'BRIEN JS; WARNER TG.1980; CLIN. GENET.; DNK; DA. 1980; VOL. 17; NO 1; PP. 35-38; BIBL. 18 REF.Article

CHERRY RED SPOT-ATAXIA-MYOCLONUSNEETENS A; LIBERT J; MARTIN JJ et al.1979; BULL. SOC. BELGE OPHTALMOL.; BEL; DA. 1979; VOL. 185; PP. 67-76; ABS. DUT/FRE/GER; BIBL. 2 P.Article

MACULAR CHERRY-RED SPOT IN TWO JUVENILE SIBLINGSWADA M; UEMURA Y.1979; METAB. PEDIATR. OPHTHALMOL.; GBR; DA. 1979; VOL. 3; NO 2-4; PP. 143-147; 4; BIBL. 6 REF.Article

ADULT TYPE NEURONAL STORAGE DISEASE WITH NEURAMINIDASE DEFICIENCYMIYATAKE T; ATSUMI T; OBAYASHI T et al.1979; ANN. NEUROL.; USA; DA. 1979; VOL. 6; NO 3; PP. 232-244; BIBL. 51 REF.Article

RETINAL EMBOLIZATION FROM ENDOCARDITISREESE LT; SHAFER D.1978; ANN. OPHTHALMOL.; USA; DA. 1978; VOL. 10; NO 12; PP. 1655-1657; BIBL. 3 REF.Article

NEURAMINIDASE DEFICIENCY IN THE CHERRY RED SPOT-MYOCLONUS SYNDROMA.O'BRIEN JS.1977; BIOCHEM. BIOPHYS. RES. COMMUNIC.; U.S.A.; DA. 1977; VOL. 79; NO 4; PP. 1136-1141; BIBL. 16 REF.Article

NEURAMINIDASE ACTIVITIES IN SIALIDOSIS AND MUCOLIPIDOSISKURIYAMA M; MIYATAKE T; OWADA M et al.1982; J. NEUROL. SCI.; ISSN 0022-510X; NLD; DA. 1982; VOL. 54; NO 2; PP. 181-187; BIBL. 2 P.Article

CHERRY-RED SPOT MYOCLONUS SYNDROME AND ALPHA -NEURAMINIDASE DEFICIENCY: NEUROPHYSIOLOGICAL PHARMACOLOGICAL AND BIOCHEMICAL STUDY IN AND ADULTFRANCESCHETTI S; UZIEL G; DI DONATO S et al.1980; J. NEUROL. NEUROSURG. PSYCHIATR.; ISSN 0022-3050; GBR; DA. 1980; VOL. 43; NO 10; PP. 934-940; BIBL. 30 REF.Article

ELEN PATIENT MET MUCOLIPIDOSIS TYPE I: EEN LYSOSOMALE STAPELINGSZIEKTE = UN MALADE ATTEINT DE MUCOLIPIDOSE DE TYPE I: UNE MALADIE DE LA MISE EN RESERVE DANS LES LYSOSOMESBAKKER HD; ABELIN NGGM; VAN GENNIP AH et al.1979; T. KINDERGENEESKDE; NLD; DA. 1979; VOL. 47; NO 6; PP. 219-223; ABS. ENG; BIBL. 18 REF.Article

LES MALADIES LYSOSOMIALES DE STOCKAGE ET LA RETINELIBERT J.1978; J. FR. OPHTALMOL.; FRA; DA. 1978; VOL. 1; NO 11; PP. 699-710; BIBL. 2 P.Article

A NEW JUVENILE HEXOSAMINIDASE DEFICIENCY DISEASE PRESENTING AS CEREBELLAR ATAXIA. CLINICAL AND BIOCHEMICAL STUDIES.JOHNSON WG; CHUTORIAN A; MIRANDA A et al.1977; NEUROLOGY; U.S.A.; DA. 1977; VOL. 27; NO 11; PP. 1012-1018; BIBL. 47 REF.Article

OCULO-NEURAL INVOLVEMENT IN AN ENZYMATICALLY PROVEN CASE OF NIEMANN-PICK DISEASE TYPE BHAMMERSEN G; OPPERMANN HC; HARMS E et al.1979; EUROP. J. PEDIATR.; DEU; DA. 1979; VOL. 132; NO 2; PP. 77-84; BIBL. 12 REF.Article

MUCOLIPIDOSIS I, THE CHERRY RED-SPOT-MYOCLONUS SYNDROME AND NEURAMINIDASE DEFICIENCYSPRANGER J; CANTZ M.1978; BIRTH DEFECTS ORIGIN. ARTICLE SER.; USA; DA. 1978; VOL. 14; NO 6B; PP. 105-112; BIBL. 35 REF.Article

OCULAR MANIFESTATIONS OF GROUP A NIEMANN-PICK DISEASE.WALTON DS; ROBB RM; CROCKER AC et al.1978; AMER. J. OPHTHALMOL.; U.S.A.; DA. 1978; VOL. 85; NO 2; PP. 174-180; BIBL. 1 P.Article

Biochemical study of sialidosis type I in a Russian familyTSVETKOVA, I. V; PETUSHKOVA, N. A; ZOLOTUCHINA, T. V et al.Journal of inherited metabolic disease. 1987, Vol 10, Num 1, pp 18-23, issn 0141-8955Article