Underlying genetic diagnosis of Pierre Robin sequence: retrospective chart review at two children's hospitals and a systematic literature review
K Izumi, LL Konczal, AL Mitchell, MC Jones - The Journal of pediatrics, 2012 - Elsevier
OBJECTIVES: To determine the underlying genetic diagnosis of Pierre Robin sequence
(PRS) in 2 cohorts of individuals, assess the accuracy of genetic evaluation in young infants …
(PRS) in 2 cohorts of individuals, assess the accuracy of genetic evaluation in young infants …
[HTML][HTML] Long-term preservation of intellectual functioning in sapropterin-treated infants and young children with phenylketonuria: A seven-year analysis
S Waisbren, BK Burton, A Feigenbaum… - Molecular genetics and …, 2021 - Elsevier
Sapropterin dihydrochloride has been approved for the treatment of hyperphenylalaninemia
in infants and young children with phenylketonuria (PKU). Sapropterin can reduce …
in infants and young children with phenylketonuria (PKU). Sapropterin can reduce …
Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both?
A Pennisi, A Rötig, CJ Roux, R Lévy… - Journal of medical …, 2022 - jmg.bmj.com
Background Biallelic variants in PNPT1 cause a mitochondrial disease of variable severity.
PNPT1 (polynucleotide phosphorylase) is a mitochondrial protein involved in RNA …
PNPT1 (polynucleotide phosphorylase) is a mitochondrial protein involved in RNA …
The perils of SNP microarray testing: uncovering unexpected consanguinity
BACKGROUND: Although single nucleotide polymorphism chromosomal microarrays
identify areas of small genetic deletions or duplications, they can also reveal regions of …
identify areas of small genetic deletions or duplications, they can also reveal regions of …
[HTML][HTML] Life-threatening presentations of propionic acidemia due to the Amish PCCB founder variant
WB Hannah, KJ Dempsey, LAP Schillaci… - Molecular genetics and …, 2019 - Elsevier
Although individuals of Amish descent with propionic acidemia (PA) are generally thought to
have a milder disease phenotype, we now have a better understanding of the natural history …
have a milder disease phenotype, we now have a better understanding of the natural history …
[HTML][HTML] A novel cause of emergent hyperammonemia: Cryptococcal fungemia and meningitis
WB Hannah, G Nizialek, KJ Dempsey… - Molecular Genetics and …, 2021 - Elsevier
Among etiologies of hyperammonemic emergencies, infection must be considered in certain
clinical contexts, particularly among immunocompromised individuals. Although …
clinical contexts, particularly among immunocompromised individuals. Although …
Idiopathic chronic pancreatitis treated with ivacaftor in a CFTR carrier with methylmalonic acidemia
TY Tang, VB Cruz, LL Konczal - Journal of Cystic Fibrosis, 2022 - Elsevier
CFTR mutation carriers, numbering 1 in 25 among Caucasians, have an increased risk of
developing chronic pancreatitis due to the underlying dysfunction of ion channels created by …
developing chronic pancreatitis due to the underlying dysfunction of ion channels created by …
[CITATION][C] TWO NOVEL CYP19A1 GENE MUTATIONS IN AN ADOLESCENT MALE PRESENTING WITH AN UNUSUAL FRACTURE
E Richardson, LL Konczal… - HORMONE …, 2017 - … ALLSCHWILERSTRASSE 10, CH …
[CITATION][C] HYPERAMMONEMIC EMERGENCIES DUE TO UREASE-PRODUCING PATHOGENS
WB Hannah, N Placone… - MOLECULAR …, 2018 - … INC ELSEVIER SCIENCE 525 B ST …
[CITATION][C] RECURRENT LACTIC AND KETO-ACIDOSIS, HYPO-AND HYPER-GLYCEMIA WITH COMPLEX III DEFICIENCY DUE TO MUTATION IN CYC1
S Kikano, L Rice, DS Kerr… - MOLECULAR …, 2016 - … INC ELSEVIER SCIENCE 525 B ST …