Search Results - "Konczal, Laura L"

Underlying Genetic Diagnosis of Pierre Robin Sequence: Retrospective Chart Review at Two Children’s Hospitals and a Systematic Literature Review by Izumi, Kosuke, MD, Konczal, Laura L., MD, Mitchell, Anna L., MD, Jones, Marilyn C., MD

“…Objectives To determine the underlying genetic diagnosis of Pierre Robin sequence (PRS) in 2 cohorts of individuals, assess the accuracy of genetic evaluation…”
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A novel cause of emergent hyperammonemia: Cryptococcal fungemia and meningitis by Hannah, William B., Nizialek, Gregory, Dempsey, Katherine J., Armitage, Keith B., McCandless, Shawn E., Konczal, Laura L.

“…Among etiologies of hyperammonemic emergencies, infection must be considered in certain clinical contexts, particularly among immunocompromised individuals…”
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Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database by Sen, Kuntal, Izem, Rima, Long, Yuelin, Jiang, Jiji, Konczal, Laura L., McCarter, Robert J., Mew, Nicholas Ah, Baumgartner, Matthias R., Berry, Gerard, Berry, Susan A., Burgard, Peter, Burrage, Lindsay C., Cederbaum, Stephen, Coughlin, Curtis, Diaz, George A., Enns, Gregory, Gallagher, Renata C., Harding, Cary O., Hoffmann, Georg F., Le Mons, Cynthia, McCandless, Shawn E., Merritt, J. Lawrence, Nagamani, Sandesh C. S., Schulze, Andreas, Seminara, Jennifer, Stricker, Tamar, Tuchman, Mendel, Waisbren, Susan, Weisfeld‐Adams, James D., Wong, Derek, Yudkoff, Marc, Gropman, Andrea L., Bedoyan, Jirair K.

“…Background Ornithine transcarbamylase deficiency (OTCD) due to an X‐linked OTC mutation, is responsible for moderate to severe hyperammonemia (HA) with…”
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Life-threatening presentations of propionic acidemia due to the Amish PCCB founder variant by Hannah, William B., Dempsey, Katherine J., Schillaci, Lori-Anne P., Zacharias, Michael, McCandless, Shawn E., Wynshaw-Boris, Anthony, Konczal, Laura L., Bedoyan, Jirair K.

“…Although individuals of Amish descent with propionic acidemia (PA) are generally thought to have a milder disease phenotype, we now have a better understanding…”
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The Perils of SNP Microarray Testing: Uncovering Unexpected Consanguinity by Tarini, Beth A., MD, Konczal, Laura L., MD, Goldenberg, Aaron J., PhD, MPH, Goldman, Edward B., JD, McCandless, Shawn E., MD

“…Abstract Background Although single nucleotide polymorphism chromosomal microarrays identify areas of small genetic deletions or duplications, they can also…”
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Idiopathic chronic pancreatitis treated with ivacaftor in a CFTR carrier with methylmalonic acidemia by Tang, Tin-Yun, Cruz, Vincent B., Konczal, Laura L.

“…•CFTR carrier with methylmalonic acidemia given ivacaftor for chronic pancreatitis.•Reduced lipase/ chronic pain with fewer admissions post ivacaftor suggests…”
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Long-term preservation of intellectual functioning in sapropterin-treated infants and young children with phenylketonuria: A seven-year analysis by Waisbren, Susan, Burton, Barbara K., Feigenbaum, Annette, Konczal, Laura L., Lilienstein, Joshua, McCandless, Shawn E., Rowell, Richard, Sanchez-Valle, Amarilis, Whitehall, Kaleigh B., Longo, Nicola

“…Sapropterin dihydrochloride has been approved for the treatment of hyperphenylalaninemia in infants and young children with phenylketonuria (PKU). Sapropterin…”
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Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both? by Pennisi, Alessandra, Rötig, Agnès, Roux, Charles-Joris, Lévy, Raphaël, Henneke, Marco, Gärtner, Jutta, Teke Kisa, Pelin, Sarioglu, Fatma Ceren, Yiş, Uluç, Konczal, Laura L, Burkardt, Deepika D, Wu, Sulin, Gaignard, Pauline, Besmond, Claude, Hubert, Laurence, Rio, Marlène, Barcia, Giulia, Munnich, Arnold, Boddaert, Nathalie, Schiff, Manuel

“…Biallelic variants in cause a mitochondrial disease of variable severity. PNPT1 (polynucleotide phosphorylase) is a mitochondrial protein involved in RNA…”
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A novel cause of emergent hyperammonemia: Cryptococcal fungemia and meningitis by Hannah, William B, Nizialek, Gregory, Dempsey, Katherine J, Armitage, Keith B, McCandless, Shawn E, Konczal, Laura L

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