Gahl WA - Search Results

1

Oral monosaccharide therapies to reverse renal and muscle hyposialylation in a mouse model of GNE myopathy.

Niethamer TK, Yardeni T, Leoyklang P, Ciccone C, Astiz-Martinez A, Jacobs K, Dorward HM, Zerfas PM, Gahl WA, Huizing M. Niethamer TK, et al. Among authors: gahl wa. Mol Genet Metab. 2012 Dec;107(4):748-55. doi: 10.1016/j.ymgme.2012.10.011. Epub 2012 Oct 18. Mol Genet Metab. 2012. PMID: 23122659 Free PMC article.

2

Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS).

Anikster Y, Lucero C, Touchman JW, Huizing M, McDowell G, Shotelersuk V, Green ED, Gahl WA. Anikster Y, et al. Among authors: gahl wa. Mol Genet Metab. 1999 Feb;66(2):111-6. doi: 10.1006/mgme.1998.2790. Mol Genet Metab. 1999. PMID: 10068513

3

Sialuria in a Portuguese girl: clinical, biochemical, and molecular characteristics.

Ferreira H, Seppala R, Pinto R, Huizing M, Martins E, Braga AC, Gomes L, Krasnewich DM, Sa Miranda MC, Gahl WA. Ferreira H, et al. Among authors: gahl wa. Mol Genet Metab. 1999 Jun;67(2):131-7. doi: 10.1006/mgme.1999.2852. Mol Genet Metab. 1999. PMID: 10356312

4

Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome.

Introne W, Boissy RE, Gahl WA. Introne W, et al. Among authors: gahl wa. Mol Genet Metab. 1999 Oct;68(2):283-303. doi: 10.1006/mgme.1999.2927. Mol Genet Metab. 1999. PMID: 10527680 Review.

5

Pulmonary function and high-resolution CT findings in patients with an inherited form of pulmonary fibrosis, Hermansky-Pudlak syndrome, due to mutations in HPS-1.

Brantly M, Avila NA, Shotelersuk V, Lucero C, Huizing M, Gahl WA. Brantly M, et al. Among authors: gahl wa. Chest. 2000 Jan;117(1):129-36. doi: 10.1378/chest.117.1.129. Chest. 2000. PMID: 10631210

6

Characterization of a partial pseudogene homologous to the Hermansky-Pudlak syndrome gene HPS-1; relevance for mutation detection.

Huizing M, Anikster Y, Gahl WA. Huizing M, et al. Among authors: gahl wa. Hum Genet. 2000 Mar;106(3):370-3. doi: 10.1007/s004390051053. Hum Genet. 2000. PMID: 10798370

7

Corneal crystals in nephropathic cystinosis: natural history and treatment with cysteamine eyedrops.

Gahl WA, Kuehl EM, Iwata F, Lindblad A, Kaiser-Kupfer MI. Gahl WA, et al. Mol Genet Metab. 2000 Sep-Oct;71(1-2):100-20. doi: 10.1006/mgme.2000.3062. Mol Genet Metab. 2000. PMID: 11001803 Review.

8

Hermansky-Pudlak syndrome and related disorders of organelle formation.

Huizing M, Anikster Y, Gahl WA. Huizing M, et al. Among authors: gahl wa. Traffic. 2000 Nov;1(11):823-35. doi: 10.1034/j.1600-0854.2000.011103.x. Traffic. 2000. PMID: 11208073 Free article. Review.

9

Molecular cloning and characterization of human VPS18, VPS 11, VPS16, and VPS33.

Huizing M, Didier A, Walenta J, Anikster Y, Gahl WA, Krämer H. Huizing M, et al. Among authors: gahl wa. Gene. 2001 Feb 21;264(2):241-7. doi: 10.1016/s0378-1119(01)00333-x. Gene. 2001. PMID: 11250079

10

Dominant inheritance of sialuria, an inborn error of feedback inhibition.

Leroy JG, Seppala R, Huizing M, Dacremont G, De Simpel H, Van Coster RN, Orvisky E, Krasnewich DM, Gahl WA. Leroy JG, et al. Among authors: gahl wa. Am J Hum Genet. 2001 Jun;68(6):1419-27. doi: 10.1086/320598. Epub 2001 Apr 18. Am J Hum Genet. 2001. PMID: 11326336 Free PMC article.

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