Spycher MA - Search Results

1

Infantile systemic hyalinosis in siblings: clinical report, biochemical and ultrastructural findings, and review of the literature.

Stucki U, Spycher MA, Eich G, Rossi A, Sacher P, Steinmann B, Superti-Furga A. Stucki U, et al. Among authors: spycher ma. Am J Med Genet. 2001 Apr 22;100(2):122-9. doi: 10.1002/1096-8628(20010422)100:2<122::aid-ajmg1236>3.0.co;2-0. Am J Med Genet. 2001. PMID: 11298373

2

Infantile phytanic acid storage disease, a disorder of peroxisome biogenesis: a case report.

Wanders RJ, Boltshauser E, Steinmann B, Spycher MA, Schutgens RB, van den Bosch H, Tager JM. Wanders RJ, et al. Among authors: spycher ma. J Neurol Sci. 1990 Aug;98(1):1-11. doi: 10.1016/0022-510x(90)90177-o. J Neurol Sci. 1990. PMID: 1700075

3

Feline mucopolysaccharidosis VII due to beta-glucuronidase deficiency.

Gitzelmann R, Bosshard NU, Superti-Furga A, Spycher MA, Briner J, Wiesmann U, Lutz H, Litschi B. Gitzelmann R, et al. Among authors: spycher ma. Vet Pathol. 1994 Jul;31(4):435-43. doi: 10.1177/030098589403100405. Vet Pathol. 1994. PMID: 7941232

4

Anomalous eosinophil granulocytes in blood and bone marrow: a diagnostic marker for infantile GM1-gangliosidosis?

Gitzelmann R, Spycher MA, Adank S, Baerlocher K, Steinmann B. Gitzelmann R, et al. Among authors: spycher ma. Eur J Pediatr. 1985 May;144(1):82-4. doi: 10.1007/BF00491934. Eur J Pediatr. 1985. PMID: 3926503

5

Spontaneous mucolipidosis in a cat: an animal model of human I-cell disease.

Bosshard NU, Hubler M, Arnold S, Briner J, Spycher MA, Sommerlade HJ, von Figura K, Gitzelmann R. Bosshard NU, et al. Among authors: spycher ma. Vet Pathol. 1996 Jan;33(1):1-13. doi: 10.1177/030098589603300101. Vet Pathol. 1996. PMID: 8826001

6

Mucolipidosis type II in a domestic shorthair cat.

Hubler M, Haskins ME, Arnold S, Kaser-Hotz B, Bosshard NU, Briner J, Spycher MA, Gitzelmann R, Sommerlade HJ, von Figura K. Hubler M, et al. Among authors: spycher ma. J Small Anim Pract. 1996 Sep;37(9):435-41. doi: 10.1111/j.1748-5827.1996.tb02444.x. J Small Anim Pract. 1996. PMID: 8887204

7

Case report 693: Schneckenbecken dysplasia.

Giedion A, Biedermann K, Briner J, Soler R, Spycher M. Giedion A, et al. Skeletal Radiol. 1991;20(7):534-8. doi: 10.1007/BF00194254. Skeletal Radiol. 1991. PMID: 1754916

8

Histopathologic and ultrastructural study of lupus-like skin lesions in a patient with Bloom syndrome.

Grob M, Wyss M, Spycher MA, Dommann S, Schinzel A, Burg G, Trüeb RM. Grob M, et al. Among authors: spycher ma. J Cutan Pathol. 1998 May;25(5):275-8. doi: 10.1111/j.1600-0560.1998.tb01733.x. J Cutan Pathol. 1998. PMID: 9696294

9

Early and severe sensory loss in three adult siblings with hexosaminidase A and B deficiency (Sandhoff disease).

Schnorf H, Gitzelmann R, Bosshard NU, Spycher M, Waespe W. Schnorf H, et al. J Neurol Neurosurg Psychiatry. 1995 Nov;59(5):520-3. doi: 10.1136/jnnp.59.5.520. J Neurol Neurosurg Psychiatry. 1995. PMID: 8530938 Free PMC article.

10

[Adult form of GM2-gangliosidosis: a man and 2 sisters with hexosaminidase-A and -B deficiency (Sandhoff disease) and literature review].

Schnorf H, Bosshard NU, Gitzelmann R, Spycher MA, Isler P, Waespe W. Schnorf H, et al. Among authors: spycher ma. Schweiz Med Wochenschr. 1996 May 4;126(18):757-64. Schweiz Med Wochenschr. 1996. PMID: 8693300 Review. German.

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