Gropman Lab

Publications

Featured Publications

  • Hemodynamics of prefrontal cortex in ornithine transcarbamylase deficiency: A twin case study

    Anderson AA, Gropman A, Le Mons C, Stratakis CA, Gandjbakhche AH PMID: 32922350; PMCID: PMC7456944. Front Neurol 14;11:809. doi: 10.3389/fneur.2020.00809. August (2020)

  • Multimodal imaging in urea cycle-related neurological disease - What can imaging after hyperammonemia teach us?

    Sen K, Whitehead MT, Gropman AL. PMID: 33344172; PMCID: PMC7739971. Transl Sci Rare Dis. 3;5(1-2):87-95. doi: 10.3233/TRD-200048 August (2020)

  • Neurodevelopmental outcome of prenatally diagnosed boys with 47,XXY (Klinefelter syndrome) and the potential influence of early hormonal therapy

    Samango-Sprouse CA, Tran SL, Lasutschinkow PC, Sadeghin T, Powell S, Mitchell FL, Gropman A. PMID: 32220052 Am J Med Genet A 182(8):1881-1889. doi: 10.1002/ajmg.a.61561. August (2020)

  • Neurocognitive development and capabilities in boys with 49,XXXXY syndrome

    Gropman AL, Porter GF, Lasutschinkow PC, Sadeghin T, Tipton ES, Powell S, Samango-Sprouse CA. PMID: 32662248. Am J Med Genet A doi: 10.1002/ajmg.a.61736 July (2020)

  • Molecular genetic and mitochondrial metabolic analyses confirm the suspected mitochondrial etiology in a pediatric patient with an atypical form of alternating hemiplegia of childhood

    Gropman A, Uittenbogaard M, Brantner CA, Wang Y, Wong LJ, Chiaramello A PMID: 32489883; PMCID: PMC7262444 Mol Genet Metab Rep.28;24:100609. doi: 10.1016/j.ymgmr.2020.100609 May (2020)

  • Evaluation of neurocognitive function of prefrontal cortex in ornithine transcarbamylase deficiency

    Anderson A, Gropman A, Le Mons C, Stratakis C, Gandjbakhche A PMID: 31952925; PMCID: PMC7416502. Mol Genet Metab 129(3):207-212 doi: 10.1016/j.ymgme.2019.12.014 January (2020)

  • Hepatic arginase deficiency fosters dysmyelination during postnatal CNS development

    Liu XB, Haney JR, Cantero G, Lambert JR, Otero-Garcia M, Truong B, Gropman A, Cobos I, Cederbaum SD, Lipshutz GS PMID: 31484827; PMCID: PMC6777909 JCI Insight 4(17):e130260 doi: 10.1172/jci.insight.130260 September (2019)

  • The nuclear background influences the penetrance of the near-homoplasmic m.1630 A > G MELAS variant in a symptomatic proband and asymptomatic mother

    Uittenbogaard M, Wang H, Zhang VW, Wong LJ, Brantner CA, Gropman A, Chiaramello A. PMID: 30709774; PMCID: PMC6773428. Mol Genet Metab 126(4):429-438. doi: 10.1016/j.ymgme.2019.01.022. Epub 2019 Jan 25 January (2019)

  • The utility of EEG monitoring in neonates with hyperammonemia due to inborn errors of metabolism

    Liu XB, Haney JR, Cantero G, Lambert JR, Otero-Garcia M, Truong B, Gropman A, Cobos I, Cederbaum SD, Lipshutz GS PMID: 30197275 Mol Genet Metab 125(3):235-240. doi: 10.1016/j.ymgme.2018.08.011. Epub November (2018)

  • Investigating neurological deficits in carriers and affected patients with ornithine transcarbamylase deficiency

    Sprouse C, King J, Helman G, Pacheco-Colón I, Shattuck K, Breeden A, Seltzer R, VanMeter JW, Gropman AL PMID: 24881970; PMCID: PMC4458385 Mol Genet Metab 113(1-2):136-41. doi: 10.1016/j.ymgme.2014.05.007 May (2014)
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