Bosshard N - Search Results

1

Low beta-glucuronidase enzyme activity and mutations in the human beta-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote.

Vervoort R, Gitzelmann R, Bosshard N, Maire I, Liebaers I, Lissens W. Vervoort R, et al. Among authors: bosshard n. Hum Genet. 1998 Jan;102(1):69-78. doi: 10.1007/s004390050656. Hum Genet. 1998. PMID: 9490302

2

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: bosshard nu. Vet Pathol. 1994 Jul;31(4):435-43. doi: 10.1177/030098589403100405. Vet Pathol. 1994. PMID: 7941232

3

Clinical, biochemical and molecular findings in a patient with X-linked liver glycogenosis followed for 40 years.

Hendrickx J, Bosshard NU, Willems P, Gitzelmann R. Hendrickx J, et al. Among authors: bosshard nu. Eur J Pediatr. 1998 Nov;157(11):919-23. doi: 10.1007/s004310050967. Eur J Pediatr. 1998. PMID: 9835437

4

Molecular diagnosis of type 1c glycogen storage disease.

Janecke AR, Bosshard NU, Mayatepek E, Schulze A, Gitzelmann R, Burchell A, Bartram CR, Janssen B. Janecke AR, et al. Among authors: bosshard nu. Hum Genet. 1999 Mar;104(3):275-7. doi: 10.1007/s004390050948. Hum Genet. 1999. PMID: 10323254

5

A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies).

Kalaydjieva L, Perez-Lezaun A, Angelicheva D, Onengut S, Dye D, Bosshard NU, Jordanova A, Savov A, Yanakiev P, Kremensky I, Radeva B, Hallmayer J, Markov A, Nedkova V, Tournev I, Aneva L, Gitzelmann R. Kalaydjieva L, et al. Among authors: bosshard nu. Am J Hum Genet. 1999 Nov;65(5):1299-307. doi: 10.1086/302611. Am J Hum Genet. 1999. PMID: 10521295 Free PMC article.

6

Partial deficiency of galactose-1-phosphate uridyltransferase.

Gitzelmann R, Bosshard NU. Gitzelmann R, et al. Among authors: bosshard nu. Eur J Pediatr. 1995;154(7 Suppl 2):S40-4. doi: 10.1007/BF02143802. Eur J Pediatr. 1995. PMID: 7671963 Review.

7

Egasyn affects the processing of beta-glucuronidase in mouse liver.

Pfister K, Bosshard N, Zopfi M, Gitzelmann R. Pfister K, et al. Among authors: bosshard n. Biochem J. 1988 Nov 1;255(3):825-32. doi: 10.1042/bj2550825. Biochem J. 1988. PMID: 3214427 Free PMC article.

8

Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0.

Orho M, Bosshard NU, Buist NR, Gitzelmann R, Aynsley-Green A, Blümel P, Gannon MC, Nuttall FQ, Groop LC. Orho M, et al. Among authors: bosshard nu. J Clin Invest. 1998 Aug 1;102(3):507-15. doi: 10.1172/JCI2890. J Clin Invest. 1998. PMID: 9691087 Free PMC article.

9

Defective neutrophil and monocyte functions in glycogen storage disease type Ib: a literature review.

Gitzelmann R, Bosshard NU. Gitzelmann R, et al. Among authors: bosshard nu. Eur J Pediatr. 1993;152 Suppl 1:S33-8. doi: 10.1007/BF02072085. Eur J Pediatr. 1993. PMID: 8391445 Review.

10

Lysosomal enzyme activities in serum and leukocytes from patients with carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase deficiency).

Barone R, Carchon H, Jansen E, Pavone L, Fiumara A, Bosshard NU, Gitzelmann R, Jaeken J. Barone R, et al. Among authors: bosshard nu. J Inherit Metab Dis. 1998 Apr;21(2):167-72. doi: 10.1023/a:1005351927573. J Inherit Metab Dis. 1998. PMID: 9584269

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