Format
Items per page
Sort by

Send to:

Choose Destination

Links from PubMed

Items: 8

2.

[I-cell disease and pseudo-Hurler polydystrophy].

Owada M.

Nihon Rinsho. 1995 Dec;53(12):3028-34. Review. Japanese.

PMID:
8577054
3.

Inborn errors of lysosomal catabolism--principles of heterozygote detection.

Jolly RD, Desnick RJ.

Am J Med Genet. 1979;4(3):293-307. Review.

PMID:
117711
4.

[I-cell disease: elucidation of the enzyme defect and its molecular biology significance].

Leroy JG.

Verh K Acad Geneeskd Belg. 1989;51(3):231-67. Review. Dutch.

PMID:
2686262
5.

Molecular analysis of the GlcNac-1-phosphotransferase.

Braulke T, Pohl S, Storch S.

J Inherit Metab Dis. 2008 Apr;31(2):253-7. doi: 10.1007/s10545-008-0862-5. Epub 2008 Apr 15. Review.

PMID:
18425436
6.

A role for inherited metabolic deficits in persistent developmental stuttering.

Kang C, Drayna D.

Mol Genet Metab. 2012 Nov;107(3):276-80. doi: 10.1016/j.ymgme.2012.07.020. Epub 2012 Jul 28. Review.

7.

Mucolipidosis type II (I-cell disease) masquerading as rickets: two case reports and review of literature.

Lin MH, Pitukcheewanont P.

J Pediatr Endocrinol Metab. 2012;25(1-2):191-5. Review.

PMID:
22570975
8.

Sialidoses (mucolipidoses), clinical pictures.

Wiesmann UN, Herschkowitz N.

Adv Exp Med Biol. 1980;125:385-99. Review. No abstract available.

PMID:
6102429
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk