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Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|January 3, 2022
Idiopathic chronic pancreatitis treated with ivacaftor in a CFTR carrier with methylmalonic acidemiaTin-Yun Tang, Vincent B Cruz, Laura L Konczal
The Journal of Pediatrics|November 4, 2011
Underlying genetic diagnosis of Pierre Robin sequence: retrospective chart review at two children's hospitals and a systematic literature reviewKosuke Izumi, Laura L Konczal, Anna L Mitchell, et al.
Pediatric Neurology|July 6, 2013
The perils of SNP microarray testing: uncovering unexpected consanguinityBeth A Tarini, Laura L Konczal, Aaron J Goldenberg, et al.
Molecular Genetics and Metabolism Reports|December 13, 2021
A novel cause of emergent hyperammonemia: <i>Cryptococcal</i> fungemia and meningitisWilliam B Hannah, Gregory Nizialek, Katherine J Dempsey, et al.
Molecular Genetics & Genomic Medicine|April 18, 2024
Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study databaseKuntal Sen, Rima Izem, Yuelin Long, et al.
Molecular Genetics and Metabolism Reports|December 18, 2019
Life-threatening presentations of propionic acidemia due to the Amish <i>PCCB</i> founder variantWilliam B Hannah, Katherine J Dempsey, Lori-Anne P Schillaci, et al.
Molecular Genetics and Metabolism|January 24, 2021
Long-term preservation of intellectual functioning in sapropterin-treated infants and young children with phenylketonuria: A seven-year analysisSusan Waisbren, Barbara K Burton, Annette Feigenbaum, et al.
Journal of Medical Genetics|November 17, 2020
Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both?Alessandra Pennisi, Agnès Rötig, Charles-Joris Roux, et al.
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