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2,661 results

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Page 1
Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study.
Tessa A, Fiermonte G, Dionisi-Vici C, Paradies E, Baumgartner MR, Chien YH, Loguercio C, de Baulny HO, Nassogne MC, Schiff M, Deodato F, Parenti G, Rutledge SL, Vilaseca MA, Melone MA, Scarano G, Aldamiz-Echevarría L, Besley G, Walter J, Martinez-Hernandez E, Hernandez JM, Pierri CL, Palmieri F, Santorelli FM. Tessa A, et al. Among authors: walter j. Hum Mutat. 2009 May;30(5):741-8. doi: 10.1002/humu.20930. Hum Mutat. 2009. PMID: 19242930
An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study.
Steenweg ME, Jakobs C, Errami A, van Dooren SJ, Adeva Bartolomé MT, Aerssens P, Augoustides-Savvapoulou P, Baric I, Baumann M, Bonafé L, Chabrol B, Clarke JT, Clayton P, Coker M, Cooper S, Falik-Zaccai T, Gorman M, Hahn A, Hasanoglu A, King MD, de Klerk HB, Korman SH, Lee C, Meldgaard Lund A, Mejaski-Bosnjak V, Pascual-Castroviejo I, Raadhyaksha A, Rootwelt T, Roubertie A, Ruiz-Falco ML, Scalais E, Schimmel U, Seijo-Martinez M, Suri M, Sykut-Cegielska J, Trefz FK, Uziel G, Valayannopoulos V, Vianey-Saban C, Vlaho S, Vodopiutz J, Wajner M, Walter J, Walter-Derbort C, Yapici Z, Zafeiriou DI, Spreeuwenberg MD, Celli J, den Dunnen JT, van der Knaap MS, Salomons GS. Steenweg ME, et al. Among authors: walter derbort c, walter j. Hum Mutat. 2010 Apr;31(4):380-90. doi: 10.1002/humu.21197. Hum Mutat. 2010. PMID: 20052767 Review.
Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency.
Banka S, Blom HJ, Walter J, Aziz M, Urquhart J, Clouthier CM, Rice GI, de Brouwer AP, Hilton E, Vassallo G, Will A, Smith DE, Smulders YM, Wevers RA, Steinfeld R, Heales S, Crow YJ, Pelletier JN, Jones S, Newman WG. Banka S, et al. Among authors: walter j. Am J Hum Genet. 2011 Feb 11;88(2):216-25. doi: 10.1016/j.ajhg.2011.01.004. Am J Hum Genet. 2011. PMID: 21310276 Free PMC article.
Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients.
van Kuilenburg AB, Dobritzsch D, Meijer J, Meinsma R, Benoist JF, Assmann B, Schubert S, Hoffmann GF, Duran M, de Vries MC, Kurlemann G, Eyskens FJ, Greed L, Sass JO, Schwab KO, Sewell AC, Walter J, Hahn A, Zoetekouw L, Ribes A, Lind S, Hennekam RC. van Kuilenburg AB, et al. Among authors: walter j. Biochim Biophys Acta. 2010 Jul-Aug;1802(7-8):639-48. doi: 10.1016/j.bbadis.2010.03.013. Epub 2010 Apr 1. Biochim Biophys Acta. 2010. PMID: 20362666 Free article.
A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.
Barøy T, Koster J, Strømme P, Ebberink MS, Misceo D, Ferdinandusse S, Holmgren A, Hughes T, Merckoll E, Westvik J, Woldseth B, Walter J, Wood N, Tvedt B, Stadskleiv K, Wanders RJ, Waterham HR, Frengen E. Barøy T, et al. Among authors: walter j. Hum Mol Genet. 2015 Oct 15;24(20):5845-54. doi: 10.1093/hmg/ddv305. Epub 2015 Jul 28. Hum Mol Genet. 2015. PMID: 26220973
Glycogen storage disease type IX: High variability in clinical phenotype.
Beauchamp NJ, Dalton A, Ramaswami U, Niinikoski H, Mention K, Kenny P, Kolho KL, Raiman J, Walter J, Treacy E, Tanner S, Sharrard M. Beauchamp NJ, et al. Among authors: walter j. Mol Genet Metab. 2007 Sep-Oct;92(1-2):88-99. doi: 10.1016/j.ymgme.2007.06.007. Epub 2007 Aug 3. Mol Genet Metab. 2007. PMID: 17689125
On compromising with vaccine-hesitant families.
Moorthy GC, Poomkudy JT, Walter J. Moorthy GC, et al. Among authors: walter j. Front Pediatr. 2024 Dec 12;12:1462958. doi: 10.3389/fped.2024.1462958. eCollection 2024. Front Pediatr. 2024. PMID: 39726528 Free PMC article. No abstract available.
Author Correction: Examining the healthy human microbiome concept.
Joos R, Boucher K, Lavelle A, Arumugam M, Blaser MJ, Claesson MJ, Clarke G, Cotter PD, De Sordi L, Dominguez-Bello MG, Dutilh BE, Ehrlich SD, Ghosh TS, Hill C, Junot C, Lahti L, Lawley TD, Licht TR, Maguin E, Makhalanyane TP, Marchesi JR, Matthijnssens J, Raes J, Ravel J, Salonen A, Scanlan PD, Shkoporov A, Stanton C, Thiele I, Tolstoy I, Walter J, Yang B, Yutin N, Zhernakova A, Zwart H; Human Microbiome Action Consortium; Doré J, Ross RP. Joos R, et al. Among authors: walter j. Nat Rev Microbiol. 2024 Dec 16. doi: 10.1038/s41579-024-01145-8. Online ahead of print. Nat Rev Microbiol. 2024. PMID: 39681696 No abstract available.
2,661 results