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Page 1
Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis.
Hanchard NA, Shchelochkov OA, Roy A, Wiszniewska J, Wang J, Popek EJ, Karpen S, Wong LJ, Scaglia F. Hanchard NA, et al. Among authors: karpen s. Mol Genet Metab. 2011 Jul;103(3):262-7. doi: 10.1016/j.ymgme.2011.03.006. Epub 2011 Mar 11. Mol Genet Metab. 2011. PMID: 21478040
Tyrosinemia.
Lam R, Armenta A, Kilic M, Karpen SJ, Scaglia F, Seu P, Goss JA. Lam R, et al. Liver Transpl. 2002 May;8(5):500-1. doi: 10.1053/jlts.2002.31744. Liver Transpl. 2002. PMID: 12004353 Free article. No abstract available.
Ornithine transcarbamylase deficiency: a possible risk factor for thrombosis.
Venkateswaran L, Scaglia F, McLin V, Hertel P, Shchelochkov OA, Karpen S, Mahoney D Jr, Yee DL. Venkateswaran L, et al. Among authors: karpen s. Pediatr Blood Cancer. 2009 Jul;53(1):100-2. doi: 10.1002/pbc.22016. Pediatr Blood Cancer. 2009. PMID: 19343772 Free PMC article.
Clinical spectrum and genetic causes of mitochondrial hepatopathy phenotype in children.
Squires JE, Miethke AG, Valencia CA, Hawthorne K, Henn L, Van Hove JLK, Squires RH, Bove K, Horslen S, Kohli R, Molleston JP, Romero R, Alonso EM, Bezerra JA, Guthery SL, Hsu E, Karpen SJ, Loomes KM, Ng VL, Rosenthal P, Mysore K, Wang KS, Friederich MW, Magee JC, Sokol RJ; Childhood Liver Disease Research Network (ChiLDReN). Squires JE, et al. Among authors: karpen sj. Hepatol Commun. 2023 May 15;7(6):e0139. doi: 10.1097/HC9.0000000000000139. eCollection 2023 Jun 1. Hepatol Commun. 2023. PMID: 37184518 Free PMC article.
271 results