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Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database.
Mol Genet Genomic Med. 2024 Apr;12(4):e2443. doi: 10.1002/mgg3.2443.
Mol Genet Genomic Med. 2024.
PMID: 38634223
Free PMC article.
Review.
Idiopathic chronic pancreatitis treated with ivacaftor in a CFTR carrier with methylmalonic acidemia.
Tang TY, Cruz VB, Konczal LL.
Tang TY, et al. Among authors: konczal ll.
J Cyst Fibros. 2022 Jul;21(4):603-605. doi: 10.1016/j.jcf.2021.12.013. Epub 2021 Dec 30.
J Cyst Fibros. 2022.
PMID: 34974990
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A novel cause of emergent hyperammonemia: Cryptococcal fungemia and meningitis.
Hannah WB, Nizialek G, Dempsey KJ, Armitage KB, McCandless SE, Konczal LL.
Hannah WB, et al. Among authors: konczal ll.
Mol Genet Metab Rep. 2021 Nov 25;29:100825. doi: 10.1016/j.ymgmr.2021.100825. eCollection 2021 Dec.
Mol Genet Metab Rep. 2021.
PMID: 34900596
Free PMC article.
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Long-term preservation of intellectual functioning in sapropterin-treated infants and young children with phenylketonuria: A seven-year analysis.
Waisbren S, Burton BK, Feigenbaum A, Konczal LL, Lilienstein J, McCandless SE, Rowell R, Sanchez-Valle A, Whitehall KB, Longo N.
Waisbren S, et al. Among authors: konczal ll.
Mol Genet Metab. 2021 Feb;132(2):119-127. doi: 10.1016/j.ymgme.2021.01.001. Epub 2021 Jan 13.
Mol Genet Metab. 2021.
PMID: 33485801
Free PMC article.
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Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both?
Pennisi A, Rötig A, Roux CJ, Lévy R, Henneke M, Gärtner J, Teke Kisa P, Sarioglu FC, Yiş U, Konczal LL, Burkardt DD, Wu S, Gaignard P, Besmond C, Hubert L, Rio M, Barcia G, Munnich A, Boddaert N, Schiff M.
Pennisi A, et al. Among authors: konczal ll.
J Med Genet. 2022 Feb;59(2):204-208. doi: 10.1136/jmedgenet-2020-107367. Epub 2020 Nov 16.
J Med Genet. 2022.
PMID: 33199448
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Life-threatening presentations of propionic acidemia due to the Amish PCCB founder variant.
Hannah WB, Dempsey KJ, Schillaci LP, Zacharias M, McCandless SE, Wynshaw-Boris A, Konczal LL, Bedoyan JK.
Hannah WB, et al. Among authors: konczal ll.
Mol Genet Metab Rep. 2019 Nov 6;21:100537. doi: 10.1016/j.ymgmr.2019.100537. eCollection 2019 Dec.
Mol Genet Metab Rep. 2019.
PMID: 31844627
Free PMC article.
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The perils of SNP microarray testing: uncovering unexpected consanguinity.
Tarini BA, Konczal LL, Goldenberg AJ, Goldman EB, McCandless SE.
Tarini BA, et al. Among authors: konczal ll.
Pediatr Neurol. 2013 Jul;49(1):50-3. doi: 10.1016/j.pediatrneurol.2013.03.008.
Pediatr Neurol. 2013.
PMID: 23827427
Free PMC article.
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Underlying genetic diagnosis of Pierre Robin sequence: retrospective chart review at two children's hospitals and a systematic literature review.
Izumi K, Konczal LL, Mitchell AL, Jones MC.
Izumi K, et al. Among authors: konczal ll.
J Pediatr. 2012 Apr;160(4):645-650.e2. doi: 10.1016/j.jpeds.2011.09.021. Epub 2011 Nov 1.
J Pediatr. 2012.
PMID: 22048048
Review.
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