Gahl WA - Search Results

1

Safety and efficacy of N-acetylmannosamine (ManNAc) in patients with GNE myopathy: an open-label phase 2 study.

Carrillo N, Malicdan MC, Leoyklang P, Shrader JA, Joe G, Slota C, Perreault J, Heiss JD, Class B, Liu CY, Bradley K, Jodarski C, Ciccone C, Driscoll C, Parks R, Van Wart S, Bayman L, Coffey CS, Quintana M, Berry SM, Huizing M, Gahl WA. Carrillo N, et al. Among authors: gahl wa. Genet Med. 2021 Nov;23(11):2067-2075. doi: 10.1038/s41436-021-01259-x. Epub 2021 Jul 13. Genet Med. 2021. PMID: 34257421 Free PMC article. Clinical Trial.

2

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

3

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.

4

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

5

Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: disorders of vesicle formation and trafficking.

Huizing M, Anikster Y, Gahl WA. Huizing M, et al. Among authors: gahl wa. Thromb Haemost. 2001 Jul;86(1):233-45. Thromb Haemost. 2001. PMID: 11487012 Review.

6

The promoter of a lysosomal membrane transporter gene, CTNS, binds Sp-1, shares sequences with the promoter of an adjacent gene, CARKL, and causes cystinosis if mutated in a critical region.

Phornphutkul C, Anikster Y, Huizing M, Braun P, Brodie C, Chou JY, Gahl WA. Phornphutkul C, et al. Among authors: gahl wa. Am J Hum Genet. 2001 Oct;69(4):712-21. doi: 10.1086/323484. Epub 2001 Aug 14. Am J Hum Genet. 2001. PMID: 11505338 Free PMC article.

7

Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency.

Huizing M, Anikster Y, Fitzpatrick DL, Jeong AB, D'Souza M, Rausche M, Toro JR, Kaiser-Kupfer MI, White JG, Gahl WA. Huizing M, et al. Among authors: gahl wa. Am J Hum Genet. 2001 Nov;69(5):1022-32. doi: 10.1086/324168. Epub 2001 Oct 3. Am J Hum Genet. 2001. PMID: 11590544 Free PMC article.

8

Characterization of the murine gene corresponding to human Hermansky-Pudlak syndrome type 3: exclusion of the Subtle gray (sut) locus.

Huizing M, Anikster Y, White JG, Gahl WA. Huizing M, et al. Among authors: gahl wa. Mol Genet Metab. 2001 Sep-Oct;74(1-2):217-25. doi: 10.1006/mgme.2001.3233. Mol Genet Metab. 2001. PMID: 11592818

9

Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2.

Huizing M, Scher CD, Strovel E, Fitzpatrick DL, Hartnell LM, Anikster Y, Gahl WA. Huizing M, et al. Among authors: gahl wa. Pediatr Res. 2002 Feb;51(2):150-8. doi: 10.1203/00006450-200202000-00006. Pediatr Res. 2002. PMID: 11809908

10

Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A.

Anikster Y, Huizing M, Anderson PD, Fitzpatrick DL, Klar A, Gross-Kieselstein E, Berkun Y, Shazberg G, Gahl WA, Hurvitz H. Anikster Y, et al. Among authors: gahl wa. Am J Hum Genet. 2002 Aug;71(2):407-14. doi: 10.1086/341606. Epub 2002 Jun 7. Am J Hum Genet. 2002. PMID: 12058346 Free PMC article.

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