Gahl WA - Search Results

1

Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease.

Gunay-Aygun M, Font-Montgomery E, Lukose L, Tuchman M, Graf J, Bryant JC, Kleta R, Garcia A, Edwards H, Piwnica-Worms K, Adams D, Bernardini I, Fischer RE, Krasnewich D, Oden N, Ling A, Quezado Z, Zak C, Daryanani KT, Turkbey B, Choyke P, Guay-Woodford LM, Gahl WA. Gunay-Aygun M, et al. Among authors: gahl wa. Clin J Am Soc Nephrol. 2010 Jun;5(6):972-84. doi: 10.2215/CJN.07141009. Epub 2010 Apr 22. Clin J Am Soc Nephrol. 2010. PMID: 20413436 Free PMC article.

2

Parenchymal organ cystine depletion with long-term cysteamine therapy.

Gahl WA, Charnas L, Markello TC, Bernardini I, Ishak KG, Dalakas MC. Gahl WA, et al. Biochem Med Metab Biol. 1992 Dec;48(3):275-85. doi: 10.1016/0885-4505(92)90074-9. Biochem Med Metab Biol. 1992. PMID: 1476793

3

Indian childhood cirrhosis in an American child.

Adamson M, Reiner B, Olson JL, Goodman Z, Plotnick L, Bernardini I, Gahl WA. Adamson M, et al. Among authors: gahl wa. Gastroenterology. 1992 May;102(5):1771-7. doi: 10.1016/0016-5085(92)91742-m. Gastroenterology. 1992. PMID: 1568588 Free article.

4

Clinical and laboratory findings in the oculocerebrorenal syndrome of Lowe, with special reference to growth and renal function.

Charnas LR, Bernardini I, Rader D, Hoeg JM, Gahl WA. Charnas LR, et al. Among authors: gahl wa. N Engl J Med. 1991 May 9;324(19):1318-25. doi: 10.1056/NEJM199105093241904. N Engl J Med. 1991. PMID: 2017228 Free article.

5

The fetal concentrating index as a gestational age-independent measure of placental dysfunction in intrauterine growth retardation.

Bernardini I, Evans MI, Nicolaides KH, Economides DL, Gahl WA. Bernardini I, et al. Among authors: gahl wa. Am J Obstet Gynecol. 1991 Jun;164(6 Pt 1):1481-7; discussion 1487-90. doi: 10.1016/0002-9378(91)91427-x. Am J Obstet Gynecol. 1991. PMID: 2048594

6

Pulsed amperometric detection of carbohydrates in lysosomal storage disease fibroblasts: a new screening technique for carbohydrate storage diseases.

Blom HJ, Andersson HC, Krasnewich DM, Gahl WA. Blom HJ, et al. Among authors: gahl wa. J Chromatogr. 1990 Nov 30;533:11-21. doi: 10.1016/s0378-4347(00)82183-0. J Chromatogr. 1990. PMID: 2081756

7

Characterization of lysosomal monoiodotyrosine transport in rat thyroid cells. Evidence for transport by system h.

Andersson HC, Kohn LD, Bernardini I, Blom HJ, Tietze F, Gahl WA. Andersson HC, et al. Among authors: gahl wa. J Biol Chem. 1990 Jul 5;265(19):10950-4. J Biol Chem. 1990. PMID: 2358448 Free article.

8

Renal handling of free sialic acid in normal humans and patients with Salla disease or renal disease.

Seppala R, Renlund M, Bernardini I, Tietze F, Gahl WA. Seppala R, et al. Among authors: gahl wa. Lab Invest. 1990 Aug;63(2):197-203. Lab Invest. 1990. PMID: 2381164

9

The effect of oral betaine on vertebral body bone density in pyridoxine-non-responsive homocystinuria.

Gahl WA, Bernardini I, Chen S, Kurtz D, Horvath K. Gahl WA, et al. J Inherit Metab Dis. 1988;11(3):291-8. doi: 10.1007/BF01800372. J Inherit Metab Dis. 1988. PMID: 3148071 Clinical Trial.

10

Oral carnitine therapy in children with cystinosis and renal Fanconi syndrome.

Gahl WA, Bernardini I, Dalakas M, Rizzo WB, Harper GS, Hoeg JM, Hurko O, Bernar J. Gahl WA, et al. J Clin Invest. 1988 Feb;81(2):549-60. doi: 10.1172/JCI113353. J Clin Invest. 1988. PMID: 3276734 Free PMC article.

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