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American Journal of Medical Genetics

Volumn 108, Issue 3, 2002, Pages 214-218

Clinical variability in mucolipidosis III (pseudo-Hurler polydystrophy)

(4) Tylki Szymaska, Anna a Czartoryska, Barbara b Groener, Johanna E M c Ugowska, Agnieszka a

a CHILDREN'S MEMORIAL HEALTH INSTITUTE (Poland)

b INSTITUTE OF PSYCHIATRY AND NEUROLOGY (Poland)

c LEIDEN UNIVERSITY MEDICAL CENTER (Netherlands)

Author keywords

Clinical heterogeneity; Mucolipidosis III; Pseudo Hurler polydystrophy

Indexed keywords

GLYCOSAMINOGLYCAN; LYSOSOME ENZYME; N ACETYLGLUCOSAMINE 1 PHOSPHOTRANSFERASE; PHOSPHOTRANSFERASE; UNCLASSIFIED DRUG; URIDINE DIPHOSPHATE N ACETYLGLUCOSAMINE;

ADOLESCENT; ARTICLE; CASE REPORT; CLINICAL FEATURE; DISEASE COURSE; ELASTICITY; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; FIBROBLAST CULTURE; HUMAN; HURLER SYNDROME; JOINT STIFFNESS; LYSOSOME; MALE; MUCOLIPIDOSIS TYPE 2; MUCOLIPIDOSIS TYPE 3; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL;

ADOLESCENT; ALPHA-MANNOSIDASE; ARYLSULFATASES; BETA-GALACTOSIDASE; BETA-N-ACETYLHEXOSAMINIDASE; CHILD, PRESCHOOL; FEMALE; GLUCURONIDASE; HUMANS; INFANT; LEUKOCYTES; MANNOSIDASES; MUCOLIPIDOSES; PHOSPHOTRANSFERASES;

RAPHIA FRATER;

EID: 0037087381 PISSN: 01487299 EISSN: None Source Type: Journal
DOI: 10.1002/ajmg.10224 Document Type: Article

Times cited : (22)

References (11)

1
- 0021674072
- Radiometric assays of N-acetyloglucosaminyl phosphotranspherase and a-N-acetylglucosaminyl phospho-diesterase with substrates labeled in the glucosamine moiety
- (1984) Anal Biochem , vol.142 , pp. 297-304
- Ben-Yoseph, Y.¹ Baylerian, M.S.² Nadler, H.N.³

2
- 0027417911
- Mucolipidosis III presenting as a rheumatological disorder
- (1993) J Rheumatol , vol.20 , pp. 133-136
- Brik, R.¹ Mandel, H.² Aizin, A.³ Goldscher, D.⁴ Ziegler, M.⁵ Bialik, V.⁶ Bernat, M.⁷

3
- 10144229805
- Lysosomal enzymatic activity in leukocytes of patients with various progressive neurological diseases of unknown aetiology
- (1993) Diagn Lab , vol.29 , pp. 407-414
- Czartoryska, B.¹ Górska, D.² Szirkowiec-Gmurczyk, W.³

4
- 0026440983
- An atypical form of mucolipidosis III
- (1992) J Med Genet , vol.29 , pp. 834-836
- Freisinger, P.¹ Padovani, J.C.² Maroteaux, P.³

5
- 0008622918
- Clinical variability in mucolipidodosis type III
- (1991) Clin Genet , vol.9 , pp. 504
- Gehler, J.¹ Sewell, A.C.² Spranger, J.³

6
- 0000820864
- Disorders of lysososmal enzyme phosphorylation and localization
- Scriver CR, Beaudet AL, Sly WS, Valle D, editors. New York: McGraw-Hill
- (1995) The metabolic and molecular bases of inherited disease, 7th ed. , pp. 2495-2508
- Kornfeld, S.¹ Sly, W.S.²

7
- 0026300136
- Mild I-cell disease, or severe pseudo-Hurler polydystrophy in three siblings: Further evidence for intermediate forms of mucolipidosis II and III
- (1991) Radiol Med , vol.82 , pp. 847-851
- Kozowski, K.¹ Lipson, A.² Carey, W.³

8
- 0029382916
- Thin layer chromatography of urine oligosaccharides in the diagnosis of some lysosomal storage disorder
- (1995) Ped Pol LXX , vol.10 , pp. 847-855
- Lugowska, A.¹ Tylki-Szymañska, A.² Czartoryska, B.³

9
- 19244386351
- Molecular basis of variant pseudo-Hurler polydystrophy (mucolipidosis III C)
- (2000) J Clin Invest , vol.105 , pp. 673-681
- Raas-Rotshild, A.¹ Cromier-Darie, V.² Bao, M.³ Genin, E.⁴ Salomon, R.⁵ Brever, K.⁶ Zeigler, M.⁷ Mandel, H.⁸ Toth, S.⁹ Roe, B.¹⁰ Munnich, A.¹¹ Canfield, W.M.¹²

10
- 0021284161
- UDP-n-acetylglucosamine: Lysosomal enzyme N-acetyl-glucosamine-l-phosphotransferase
- (1984) Methods Enzymol , vol.107 , pp. 163-172
- Reitman, M.L.¹ Lang, L.² Kornfeld, S.³

11
- 0027717437
- A mild form of mucolipidosis type III in four Baluch siblings
- (1993) Clin Genet , vol.44 , pp. 313-319
- Ward, C.¹ Singh, R.² Slade, C.³ Fensom, A.H.⁴ Fahmy, A.⁵ Semrin, A.⁶ Sjovall, A.⁷ Talat, A.⁸ Hasilik, A.⁹ Klein, I.¹⁰ Benson, P.F.¹¹

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