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Page 1
Relationship between age at initiation of cysteamine treatment, adherence with therapy, and glomerular kidney function in infantile nephropathic cystinosis.
Nießl C, Boulesteix AL, Oh J, Palm K, Schlingmann P, Wygoda S, Haffner D, Wühl E, Tönshoff B, Buescher A, Billing H, Hoppe B, Zirngibl M, Kettwig M, Moeller K, Acham-Roschitz B, Arbeiter K, Bald M, Benz M, Galiano M, John-Kroegel U, Klaus G, Marx-Berger D, Moser K, Mueller D, Patzer L, Pohl M, Seitz B, Treikauskas U, von Vigier RO, Gahl WA, Hohenfellner K. Nießl C, et al. Among authors: gahl wa. Mol Genet Metab. 2022 Aug;136(4):268-273. doi: 10.1016/j.ymgme.2022.06.010. Epub 2022 Jul 2. Mol Genet Metab. 2022. PMID: 35835062 Free PMC article.
Molecular based newborn screening in Germany: Follow-up for cystinosis.
Hohenfellner K, Bergmann C, Fleige T, Janzen N, Burggraf S, Olgemöller B, Gahl WA, Czibere L, Froschauer S, Röschinger W, Vill K, Harms E, Nennstiel U. Hohenfellner K, et al. Among authors: gahl wa. Mol Genet Metab Rep. 2019 Sep 18;21:100514. doi: 10.1016/j.ymgmr.2019.100514. eCollection 2019 Dec. Mol Genet Metab Rep. 2019. PMID: 31641587 Free PMC article.
Beneficial effects of starting oral cysteamine treatment in the first 2 months of life on glomerular and tubular kidney function in infantile nephropathic cystinosis.
Hohenfellner K, Nießl C, Haffner D, Oh J, Okorn C, Palm K, Schlingmann KP, Wygoda S, Gahl WA. Hohenfellner K, et al. Among authors: gahl wa. Mol Genet Metab. 2022 Aug;136(4):282-288. doi: 10.1016/j.ymgme.2022.06.009. Epub 2022 Jul 1. Mol Genet Metab. 2022. PMID: 35843134 Free PMC article.
Engulfed.
Gahl WA. Gahl WA. Mol Genet Metab. 2006 Mar;87(3):190-3. doi: 10.1016/j.ymgme.2005.10.005. Epub 2005 Dec 5. Mol Genet Metab. 2006. PMID: 16330232
Clinical, genetic, and structural characterization of a novel TUBB4B tubulinopathy.
McFadden JR, Tolete CDP, Huang Y, Macnamara E, Sept D, Nesterova G, Gahl WA, Sackett DL, Malicdan MCV. McFadden JR, et al. Among authors: gahl wa. Mol Genet Metab Rep. 2023 Jul 1;36:100990. doi: 10.1016/j.ymgmr.2023.100990. eCollection 2023 Sep. Mol Genet Metab Rep. 2023. PMID: 37448631 Free PMC article.
Risks and benefits of anesthesia for combined pediatric procedures in the NIH undiagnosed diseases program.
Macnamara EF, Loydpierson A, Latour YL, D'Souza P, Murphy J, Wolfe L, Estwick T, Johnston JM, Yang J; Undiagnosed Diseases Network; Acosta MT, Lee PR, Pierson TM, Soldatos A, Toro C, Markello T, Adams DR, Gahl WA, Yousef M, Tifft CJ. Macnamara EF, et al. Among authors: gahl wa. Mol Genet Metab. 2023 Nov;140(3):107707. doi: 10.1016/j.ymgme.2023.107707. Epub 2023 Oct 10. Mol Genet Metab. 2023. PMID: 37883914
The Undiagnosed Diseases Network International: Five years and more!
Taruscio D, Baynam G, Cederroth H, Groft SC, Klee EW, Kosaki K, Lasko P, Melegh B, Riess O, Salvatore M, Gahl WA. Taruscio D, et al. Among authors: gahl wa. Mol Genet Metab. 2020 Apr;129(4):243-254. doi: 10.1016/j.ymgme.2020.01.004. Epub 2020 Jan 17. Mol Genet Metab. 2020. PMID: 32033911
717 results