Gahl WA - Search Results

1

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.

2

A randomized placebo-controlled trial of cysteamine eye drops in nephropathic cystinosis.

Kaiser-Kupfer MI, Gazzo MA, Datiles MB, Caruso RC, Kuehl EM, Gahl WA. Kaiser-Kupfer MI, et al. Among authors: gahl wa. Arch Ophthalmol. 1990 May;108(5):689-93. doi: 10.1001/archopht.1990.01070070075038. Arch Ophthalmol. 1990. PMID: 2185723 Clinical Trial.

3

Corneal transplant in boy with nephropathic cystinosis.

Kaiser-Kupfer MI, Datiles MB, Gahl WA. Kaiser-Kupfer MI, et al. Among authors: gahl wa. Lancet. 1987 Feb 7;1(8528):331. doi: 10.1016/s0140-6736(87)92061-7. Lancet. 1987. PMID: 2880145 No abstract available.

4

Complications of nephropathic cystinosis after renal failure.

Gahl WA, Kaiser-Kupfer MI. Gahl WA, et al. Pediatr Nephrol. 1987 Jul;1(3):260-8. doi: 10.1007/BF00849221. Pediatr Nephrol. 1987. PMID: 3153286

5

Range of toxicity of topical cysteamine in rabbit eyes.

Jain S, Kuwabara T, Gahl WA, Kaiser-Kupfer MI. Jain S, et al. Among authors: gahl wa. J Ocul Pharmacol. 1988 Summer;4(2):127-31. doi: 10.1089/jop.1988.4.127. J Ocul Pharmacol. 1988. PMID: 3171336

6

Clear graft two years after keratoplasty in nephropathic cystinosis.

Kaiser-Kupfer MI, Datiles MB, Gahl WA. Kaiser-Kupfer MI, et al. Among authors: gahl wa. Am J Ophthalmol. 1988 Mar 15;105(3):318-9. doi: 10.1016/0002-9394(88)90018-9. Am J Ophthalmol. 1988. PMID: 3278617 No abstract available.

7

Long-term ocular manifestations in nephropathic cystinosis.

Kaiser-Kupfer MI, Caruso RC, Minkler DS, Gahl WA. Kaiser-Kupfer MI, et al. Among authors: gahl wa. Arch Ophthalmol. 1986 May;104(5):706-11. doi: 10.1001/archopht.1986.01050170096030. Arch Ophthalmol. 1986. PMID: 3518682

8

Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1.

Hahn SH, Krasnewich D, Brantly M, Kvittingen EA, Gahl WA. Hahn SH, et al. Among authors: gahl wa. Hum Mutat. 1995;6(1):66-73. doi: 10.1002/humu.1380060113. Hum Mutat. 1995. PMID: 7550234

9

Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus.

Kaler SG, Gallo LK, Proud VK, Percy AK, Mark Y, Segal NA, Goldstein DS, Holmes CS, Gahl WA. Kaler SG, et al. Among authors: gahl wa. Nat Genet. 1994 Oct;8(2):195-202. doi: 10.1038/ng1094-195. Nat Genet. 1994. PMID: 7842019

10

Clinical biochemical and pathologic correlations in Bietti's crystalline dystrophy.

Kaiser-Kupfer MI, Chan CC, Markello TC, Crawford MA, Caruso RC, Csaky KG, Guo J, Gahl WA. Kaiser-Kupfer MI, et al. Among authors: gahl wa. Am J Ophthalmol. 1994 Nov 15;118(5):569-82. doi: 10.1016/s0002-9394(14)76572-9. Am J Ophthalmol. 1994. PMID: 7977570

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