205 related articles for article (PubMed ID: 2115154)
1. Orofacial features of Scheie (Hurler-Scheie) syndrome (alpha-L-iduronidase deficiency).
Keith O; Scully C; Weidmann GM
Oral Surg Oral Med Oral Pathol; 1990 Jul; 70(1):70-4. PubMed ID: 2115154
[TBL] [Abstract][Full Text] [Related]
2. Apparent allelism of the Hurler, Scheie, and Hurler/Scheie syndromes.
Mueller OT; Shows TB; Opitz JM
Am J Med Genet; 1984 Jul; 18(3):547-56. PubMed ID: 6433708
[TBL] [Abstract][Full Text] [Related]
3. Hybridization studies of fibroblasts from Hurler, Scheie, and Hurler/Scheie compound patients: support for the hypothesis of allelic mutants.
Fortuin JJ; Kleijer WJ
Hum Genet; 1980 Feb; 53(2):155-9. PubMed ID: 6766899
[TBL] [Abstract][Full Text] [Related]
4. [Compound Hurler-Scheie disease in 3 siblings].
Goldberg G; Grützner P
Klin Monbl Augenheilkd; 1985 Aug; 187(2):120-3. PubMed ID: 3932747
[TBL] [Abstract][Full Text] [Related]
5. The iduronidase-deficient mucopolysaccharidoses: clinical and roentgenorgraphic features.
Stevenson RE; Howell RR; McKusick VA; Suskind R; Hanson JW; Elliott DE; Neufeld EF
Pediatrics; 1976 Jan; 57(1):111-22. PubMed ID: 813180
[TBL] [Abstract][Full Text] [Related]
6. Properties of alpha-L-iduronidase in cultured skin fibroblasts from alpha-L-iduronidase-deficient patients.
Fujibayashi S; Minami R; Ishikawa Y; Wagatsuma K; Nakao T; Tsugawa S
Hum Genet; 1984; 65(3):268-72. PubMed ID: 6421718
[TBL] [Abstract][Full Text] [Related]
7. The clinical spectrum of alpha-L-iduronidase deficiency.
Roubicek M; Gehler J; Spranger J
Am J Med Genet; 1985 Mar; 20(3):471-81. PubMed ID: 3922223
[TBL] [Abstract][Full Text] [Related]
8. Hurler-Scheie phenotype with parental consanguinity. Report of an additional case supporting the concept of genetic heterogeneity.
Kaibara N; Katsuki I; Hotokebuchi T; Takagishi K; Kure T
Clin Orthop Relat Res; 1983 May; (175):233-6. PubMed ID: 6404579
[TBL] [Abstract][Full Text] [Related]
9. alpha-L-iduronidase deficiency and possible Hurler-Scheie genetic compound. Clinical, pathologic, and biochemical findings.
Winters PR; Harrod MJ; Molenich-Heetred SA; Kirkpatrick J; Rosenberg RN
Neurology; 1976 Nov; 26(11):1003-7. PubMed ID: 824566
[TBL] [Abstract][Full Text] [Related]
10. Hurler-Scheie phenotype: a report of two pairs of inbred sibs.
Kaibara N; Eguchi M; Shibata K; Takagishi K
Hum Genet; 1979; 53(1):37-41. PubMed ID: 119701
[TBL] [Abstract][Full Text] [Related]
11. Four novel mutations underlying mild or intermediate forms of alpha-L-iduronidase deficiency (MPS IS and MPS IH/S).
Tieu PT; Bach G; Matynia A; Hwang M; Neufeld EF
Hum Mutat; 1995; 6(1):55-9. PubMed ID: 7550232
[TBL] [Abstract][Full Text] [Related]
12. Absence of alpha-L-iduronidase activity in various tissues from two sibs affected with presumably the Hurler-Scheie compound syndrome.
Thompson JN; Finley SC; Lorincz AE; Finley WH
Birth Defects Orig Artic Ser; 1975; 11(6):341-6. PubMed ID: 811284
[No Abstract] [Full Text] [Related]
13. The Hurler/Scheie phenotype in children from a consanguineous marriage: case report with electronmicroscopy of the conjunctiva and ERG.
Jensen OA; Pedersen C; Vestermark S; Warburg M
Metab Pediatr Ophthalmol; 1980; 4(3):133-4. PubMed ID: 6779061
[No Abstract] [Full Text] [Related]
14. Biochemical discrimination of Hurler and Scheie syndromes.
Hopwood JJ; Muller V
Clin Sci (Lond); 1979 Sep; 57(3):265-72. PubMed ID: 38945
[TBL] [Abstract][Full Text] [Related]
15. Hurler/Scheie phenotype. Report of an inbred sibship with tapeto-retinal degeneration and electron-microscopie examination of the conjuctiva.
Jensen OA; Pedersen C; Schwartz M; Vestermark S; Warburg M
Ophthalmologica; 1978; 176(4):194-204. PubMed ID: 96404
[TBL] [Abstract][Full Text] [Related]
16. Mucopolysaccharidosis type I.
Wraith JE; Jones S
Pediatr Endocrinol Rev; 2014 Sep; 12 Suppl 1():102-6. PubMed ID: 25345091
[TBL] [Abstract][Full Text] [Related]
17. Craniofacial abnormalities in a murine knock-out model of mucopolysaccharidosis I H: a computed tomography and anatomic study.
Graupman P; Pan D; Konair B; Hartung S; McIvor S; Whitley C; Low W; Lam CH
J Craniofac Surg; 2004 May; 15(3):392-8. PubMed ID: 15111796
[TBL] [Abstract][Full Text] [Related]
18. Mucopolysaccharidosis type I Hurler-Scheie syndrome: a case report.
Lamichhane S; Sapkota A; Sapkota S; Adhikari N; Aryal S; Adhikari P
Ann Med Surg (Lond); 2024 Jan; 86(1):588-593. PubMed ID: 38222696
[TBL] [Abstract][Full Text] [Related]
19. Enzyme replacement therapy with laronidase (Aldurazyme(®)) for treating mucopolysaccharidosis type I.
Jameson E; Jones S; Remmington T
Cochrane Database Syst Rev; 2016 Apr; 4():CD009354. PubMed ID: 27033167
[TBL] [Abstract][Full Text] [Related]
20. Enzyme replacement therapy with laronidase (Aldurazyme(®)) for treating mucopolysaccharidosis type I.
Jameson E; Jones S; Wraith JE
Cochrane Database Syst Rev; 2013 Nov; (11):CD009354. PubMed ID: 24257962
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
