Gahl WA - Search Results

1

PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.

Gunay-Aygun M, Tuchman M, Font-Montgomery E, Lukose L, Edwards H, Garcia A, Ausavarat S, Ziegler SG, Piwnica-Worms K, Bryant J, Bernardini I, Fischer R, Huizing M, Guay-Woodford L, Gahl WA. Gunay-Aygun M, et al. Among authors: gahl wa. Mol Genet Metab. 2010 Feb;99(2):160-73. doi: 10.1016/j.ymgme.2009.10.010. Epub 2009 Oct 20. Mol Genet Metab. 2010. PMID: 19914852 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

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.

7

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

8

Thyrotropin stimulation of lysosomal tyrosine transport in rat FRTL-5 thyroid cells.

Harper GS, Kohn LD, Bernardini I, Bernar J, Tietze F, Andersson HC, Gahl WA. Harper GS, et al. Among authors: gahl wa. J Biol Chem. 1988 Jul 5;263(19):9320-5. J Biol Chem. 1988. PMID: 2837483 Free article.

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

Transsulfuration in an adult with hepatic methionine adenosyltransferase deficiency.

Gahl WA, Bernardini I, Finkelstein JD, Tangerman A, Martin JJ, Blom HJ, Mullen KD, Mudd SH. Gahl WA, et al. J Clin Invest. 1988 Feb;81(2):390-7. doi: 10.1172/JCI113331. J Clin Invest. 1988. PMID: 3339126 Free PMC article.

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