104 related articles for article (PubMed ID: 850847)
1. Mucolipidosis III: two patients displaying genetic pleiotropism.
Gericke GS
S Afr Med J; 1977 Jan; 51(5):140-4. PubMed ID: 850847
[TBL] [Abstract][Full Text] [Related]
2. Genetic heterogeneity of I-cell disease is demonstrated by complementation of lysosomal enzyme processing mutants.
Shows TB; Mueller OT; Honey NK; Wright CE; Miller AL
Am J Med Genet; 1982 Jul; 12(3):343-53. PubMed ID: 6287841
[TBL] [Abstract][Full Text] [Related]
3. Effect of bacterial endotoxin on lysosomal enzyme activities of normal and mucolipidosis III fibroblasts.
Di Natale P; Stabile M; Ronsisvalle L; Utili R
Biomedicine; 1981 May; 35(2):46-9. PubMed ID: 7260237
[TBL] [Abstract][Full Text] [Related]
4. A mild form of mucolipidosis type III in four Baluch siblings.
Ward C; Singh R; Slade C; Fensom AH; Fahmy A; Semrin A; Sjövall A; Talat A; Hasilik A; Klein I
Clin Genet; 1993 Dec; 44(6):313-9. PubMed ID: 8131303
[TBL] [Abstract][Full Text] [Related]
5. A new variant mucolipidosis: biochemical investigations on two siblings.
Sandman R; Yatsiv S; Robertson WV; Erickson RP
Clin Chim Acta; 1977 Nov; 80(3):471-81. PubMed ID: 410566
[TBL] [Abstract][Full Text] [Related]
6. The mucolipidoses: identification by abnormal electrophoretic patterns of lysosomal hydrolases.
Honey NK; Miller AL; Shows TB
Am J Med Genet; 1981; 9(3):239-53. PubMed ID: 7282783
[TBL] [Abstract][Full Text] [Related]
7. [Mucolipidosis: clinical and genetic aspects].
Kolodny EH
Rev Neurol; 1998 Aug; 27(156):337-41. PubMed ID: 9736966
[TBL] [Abstract][Full Text] [Related]
8. Mucolipidosis I (acid neuraminidase deficiency). Three cases and delineation of the variability of the phenotype.
Kelly TE; Bartoshesky L; Harris DJ; McCauley RG; Feingold M; Schott G
Am J Dis Child; 1981 Aug; 135(8):703-8. PubMed ID: 7270511
[TBL] [Abstract][Full Text] [Related]
9. Mucolipidosis II and III. The genetic relationships between two disorders of lysosomal enzyme biosynthesis.
Mueller OT; Honey NK; Little LE; Miller AL; Shows TB
J Clin Invest; 1983 Sep; 72(3):1016-23. PubMed ID: 6309902
[TBL] [Abstract][Full Text] [Related]
10. Urinary lysosomal hydrolases in mucolipidosis II and mucolipidosis III.
Kress BC; Miller AL
Biochem J; 1979 Feb; 177(2):409-15. PubMed ID: 35150
[TBL] [Abstract][Full Text] [Related]
11. Mucolipidoses II and III variants with normal N-acetylglucosamine 1-phosphotransferase activity toward alpha-methylmannoside are due to nonallelic mutations.
Ben-Yoseph Y; Mitchell DA; Yager RM; Wei JT; Chen TH; Shih LY
Am J Hum Genet; 1992 Jan; 50(1):137-44. PubMed ID: 1309624
[TBL] [Abstract][Full Text] [Related]
12. Affinity chromatography of lysosomal enzymes in plasma, urine and fibroblasts of patients with mucolipidosis (ML) II and III.
den Tandt WR
Clin Chim Acta; 1980 Mar; 102(2-3):199-205. PubMed ID: 6245813
[No Abstract] [Full Text] [Related]
13. [Mucolipidosis III. Apropos of a case].
Lacasa A; Chabás A; Vera F; Díaz N; Martín N; Tajada N; Gonzalvo N
An Esp Pediatr; 1983 Aug; 19(2):118-22. PubMed ID: 6229200
[TBL] [Abstract][Full Text] [Related]
14. Neuraminidase in cultured fibroblasts and leucocytes of homozygotes and heterozygotes for the mucolipidosis II gene (I-cell disease).
Potier M; Melançon SB; Dallaire L; Chicoine R; Mameli L; Bélisle M
Am J Med Genet; 1979; 4(2):191-200. PubMed ID: 517575
[TBL] [Abstract][Full Text] [Related]
15. [Three cases of mucolipidosis type III (author's transl)].
Torreblanca J; Antelo MC; García García S; García Consuegra J; Collado F
An Esp Pediatr; 1979 Feb; 12(2):113-22. PubMed ID: 426387
[TBL] [Abstract][Full Text] [Related]
16. Mucolipidosis II. The clinical, radiological and biochemical features in three cases.
Whelan DT; Chang PL; Cockshott PW
Clin Genet; 1983 Aug; 24(2):90-6. PubMed ID: 6137302
[TBL] [Abstract][Full Text] [Related]
17. Impaired phosphorylation of lysosomal enzymes in fibroblasts of patients with mucolipidosis III.
Hasilik A; Waheed A; Cantz M; von Figura K
Eur J Biochem; 1982 Feb; 122(1):119-23. PubMed ID: 6120834
[TBL] [Abstract][Full Text] [Related]
18. [Mucolipidosis II with unusual biochemical parameters].
Morava E; Eduard P; Tóth G; Dobos M; Melegh B; Kosztolányi G
Orv Hetil; 2002 Jan; 143(3):135-7. PubMed ID: 11883111
[TBL] [Abstract][Full Text] [Related]
19. Lysosomal enzymes in medium from cultured skin fibroblasts from normal individuals and patients with lysosomal diseases.
Hultberg B; Sjöblad S
Clin Chim Acta; 1977 Oct; 80(1):79-86. PubMed ID: 409577
[TBL] [Abstract][Full Text] [Related]
20. Mucolipidosis I--a sialidosis.
Sphranger J; Gehler J; Cantz M
Am J Med Genet; 1977; 1(1):21-9. PubMed ID: 610423
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
