Gahl WA - Search Results

1

Hepatorenal findings in obligate heterozygotes for autosomal recessive polycystic kidney disease.

Gunay-Aygun M, Turkbey BI, Bryant J, Daryanani KT, Gerstein MT, Piwnica-Worms K, Choyke P, Heller T, Gahl WA. Gunay-Aygun M, et al. Among authors: gahl wa. Mol Genet Metab. 2011 Dec;104(4):677-81. doi: 10.1016/j.ymgme.2011.09.001. Epub 2011 Sep 8. Mol Genet Metab. 2011. PMID: 21945273 Free PMC article.

2

Three new mutations in a gene causing Hermansky-Pudlak syndrome: clinical correlations.

Shotelersuk V, Hazelwood S, Larson D, Iwata F, Kaiser-Kupfer MI, Kuehl E, Bernardini I, Gahl WA. Shotelersuk V, et al. Among authors: gahl wa. Mol Genet Metab. 1998 Jun;64(2):99-107. doi: 10.1006/mgme.1998.2679. Mol Genet Metab. 1998. PMID: 9705234

3

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.

4

CTNS mutations in African American patients with cystinosis.

Kleta R, Anikster Y, Lucero C, Shotelersuk V, Huizing M, Bernardini I, Park M, Thoene J, Schneider J, Gahl WA. Kleta R, et al. Among authors: gahl wa. Mol Genet Metab. 2001 Nov;74(3):332-7. doi: 10.1006/mgme.2001.3218. Mol Genet Metab. 2001. PMID: 11708862

5

3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings.

Kleta R, Skovby F, Christensen E, Rosenberg T, Gahl WA, Anikster Y. Kleta R, et al. Among authors: gahl wa. Mol Genet Metab. 2002 Jul;76(3):201-6. doi: 10.1016/s1096-7192(02)00047-1. Mol Genet Metab. 2002. PMID: 12126933

6

Effect of pirfenidone on the pulmonary fibrosis of Hermansky-Pudlak syndrome.

Gahl WA, Brantly M, Troendle J, Avila NA, Padua A, Montalvo C, Cardona H, Calis KA, Gochuico B. Gahl WA, et al. Mol Genet Metab. 2002 Jul;76(3):234-42. doi: 10.1016/s1096-7192(02)00044-6. Mol Genet Metab. 2002. PMID: 12126938 Clinical Trial.

7

Exacerbation of the ochronosis of alkaptonuria due to renal insufficiency and improvement after renal transplantation.

Introne WJ, Phornphutkul C, Bernardini I, McLaughlin K, Fitzpatrick D, Gahl WA. Introne WJ, et al. Among authors: gahl wa. Mol Genet Metab. 2002 Sep-Oct;77(1-2):136-42. doi: 10.1016/s1096-7192(02)00121-x. Mol Genet Metab. 2002. PMID: 12359141

8

Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutations.

Huizing M, Rakocevic G, Sparks SE, Mamali I, Shatunov A, Goldfarb L, Krasnewich D, Gahl WA, Dalakas MC. Huizing M, et al. Among authors: gahl wa. Mol Genet Metab. 2004 Mar;81(3):196-202. doi: 10.1016/j.ymgme.2003.11.012. Mol Genet Metab. 2004. PMID: 14972325

9

Renal glucosuria due to SGLT2 mutations.

Kleta R, Stuart C, Gill FA, Gahl WA. Kleta R, et al. Among authors: gahl wa. Mol Genet Metab. 2004 May;82(1):56-8. doi: 10.1016/j.ymgme.2004.01.018. Mol Genet Metab. 2004. PMID: 15110322

10

Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity.

Kleta R, Morse RP, Orvisky E, Krasnewich D, Alroy J, Ucci AA, Bernardini I, Wenger DA, Gahl WA. Kleta R, et al. Among authors: gahl wa. Mol Genet Metab. 2004 Jun;82(2):137-43. doi: 10.1016/j.ymgme.2004.03.001. Mol Genet Metab. 2004. PMID: 15172001

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