Letter |
| Webb BD, Weinreb NJ, Botti AC, Kirmse BM, Balwani M, JAK2V617F mutation and myeloproliferative malignancy in a patient with Type 1 Gaucher disease. Blood cells, molecules & diseases, 2011 Jan 15;46(1):103-4 | 2011 |
Journal Article |
| Inagaki K, Kirmse B, Bradbury RS, Moorthy RS, Arguello I, McGuffey CD, Tieu B, Hobbs CV, Case Report: Ocular Toxocariasis: A Report of Three Cases from the Mississippi Delta. The American journal of tropical medicine and hygiene, 2019 May;100(5):1223-1226 | 2019 |
| Khayat W, Hackett A, Shaw M, Ilie A, Dudding-Byth T, Kalscheuer VM, Christie L, Corbett MA, Juusola J, Friend KL, Kirmse BM, Gecz J, Field M, Orlowski J, A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation. Human molecular genetics, 2019 Feb 15;28(4):598-614 | 2019 |
| Ahrens-Nicklas R, Schlotawa L, Ballabio A, Brunetti-Pierri N, De Castro M, Dierks T, Eichler F, Ficicioglu C, Finglas A, Gaertner J, Kirmse B, Klepper J, Lee M, Olsen A, Parenti G, Vossough A, Vanderver A, Adang LA, Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement. Molecular genetics and metabolism, 2018 Mar;123(3):337-346 | 2018 |
| Hobbs CV, Gabriel EE, Kamthunzi P, Tegha G, Tauzie J, Li Y, Ilmet T, Artimovich E, Neal J, Hall T, Parikh S, Kirmse B, Jean-Philippe P, Chen J, Prescott WR, Palumbo P, Duffy PE, Borkowsky W, For The P S Study Team, Prevalence of Asymptomatic Parasitemia and Gametocytemia in HIV-Infected Children on Differing Antiretroviral Therapy. The American journal of tropical medicine and hygiene, 2018 Jan;98(1):67-70 | 2018 |
| Jao J, Powis KM, Kirmse B, Yu C, Epie F, Nshom E, Abrams EJ, Sperling RS, Leroith D, Geffner ME, Kurland IJ, Côté HCF, Lower mitochondrial DNA and altered mitochondrial fuel metabolism in HIV-exposed uninfected infants in Cameroon. AIDS (London, England), 2017 Nov 28;31(18):2475-2481 | 2017 |
| Kirmse B, Cabrerra-Luque J, Ayyub O, Cusmano K, Chapman K, Summar M, Plasma fibroblast growth factor-21 levels in patients with inborn errors of metabolism. Molecular genetics and metabolism reports, 2017 Dec;13:52-54 | 2017 |
| Kirmse B, Yao TJ, Hofherr S, Kacanek D, Williams PL, Hobbs CV, Hazra R, Borkowsky W, Van Dyke RB, Summar M, Acylcarnitine Profiles in HIV-Exposed, Uninfected Neonates in the United States. AIDS research and human retroviruses, 2016 Apr;32(4):339-48 | 2016 |
| McGovern MM, Wasserstein MP, Kirmse B, Duvall WL, Schiano T, Thurberg BL, Richards S, Cox GF, Novel first-dose adverse drug reactions during a phase I trial of olipudase alfa (recombinant human acid sphingomyelinase) in adults with Niemann-Pick disease type B (acid sphingomyelinase deficiency). Genetics in medicine : official journal of the American College of Medical Genetics, 2016 Jan;18(1):34-40 | 2016 |
| Viall S, Jain S, Chapman K, Ah Mew N, Summar M, Kirmse B, Members of the Division of Genetics & Metabolism at Children's National Health System., Short-term follow-up systems for positive newborn screens in the Washington Metropolitan Area and the United States. Molecular genetics and metabolism, 2015 Dec;116(4):226-30 | 2015 |
| Mew NA, Viall S, Kirmse B, Chapman KA, Deconstructing Black Swans: An Introductory Approach to Inherited Metabolic Disorders in the Neonate. Advances in neonatal care : official journal of the National Association of Neonatal Nurses, 2015 Aug;15(4):241-7; quiz E1-2 | 2015 |
| Jao J, Kirmse B, Yu C, Qiu Y, Powis K, Nshom E, Epie F, Tih PM, Sperling RS, Abrams EJ, Geffner ME, LeRoith D, Kurland IJ, Lower Preprandial Insulin and Altered Fuel Use in HIV/Antiretroviral-Exposed Infants in Cameroon. The Journal of clinical endocrinology and metabolism, 2015 Sep;100(9):3260-9 | 2015 |
| Kirmse B, Baumgart S, Rakhmanina N, Metabolic and mitochondrial effects of antiretroviral drug exposure in pregnancy and postpartum: implications for fetal and future health. Seminars in fetal & neonatal medicine, 2013 Feb;18(1):48-55 | 2013 |
| Kirmse B, Hobbs CV, Peter I, Laplante B, Caggana M, Kloke K, Raymond K, Summar M, Borkowsky W, Abnormal newborn screens and acylcarnitines in HIV-exposed and ARV-exposed infants. The Pediatric infectious disease journal, 2013 Feb;32(2):146-50 | 2013 |
| Michot C, Hubert L, Romero NB, Gouda A, Mamoune A, Mathew S, Kirk E, Viollet L, Rahman S, Bekri S, Peters H, McGill J, Glamuzina E, Farrar M, von der Hagen M, Alexander IE, Kirmse B, Barth M, Laforet P, Benlian P, Munnich A, JeanPierre M, Elpeleg O, Pines O, Delahodde A, de Keyzer Y, de Lonlay P, Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia. Journal of inherited metabolic disease, 2012 Nov;35(6):1119-28 | 2012 |
| Weisfeld-Adams JD, Morrissey MA, Kirmse BM, Salveson BR, Wasserstein MP, McGuire PJ, Sunny S, Cohen-Pfeffer JL, Yu C, Caggana M, Diaz GA, Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte. Molecular genetics and metabolism, 2010 Feb;99(2):116-23 | 2010 |
| Profitlich LE, Kirmse B, Wasserstein MP, Diaz GA, Srivastava S, High prevalence of structural heart disease in children with cblC-type methylmalonic aciduria and homocystinuria. Molecular genetics and metabolism, 2009 Dec;98(4):344-8 | 2009 |
| Hobbs CV, Voza T, Coppi A, Kirmse B, Marsh K, Borkowsky W, Sinnis P, HIV protease inhibitors inhibit the development of preerythrocytic-stage plasmodium parasites. The Journal of infectious diseases, 2009 Jan 1;199(1):134-41 | 2009 |
| Hobbs CV, Gabriel EE, Kamthunzi P, Tegha G, Tauzie J, Petzold E, Barlow-Mosha L, Chi BH, Li Y, Ilmet T, Kirmse B, Neal J, Parikh S, Deygoo N, Jean Philippe P, Mofenson L, Prescott W, Chen J, Musoke P, Palumbo P, Duffy PE, Borkowsky W, P1068s Study Team., Malaria in HIV-Infected Children Receiving HIV Protease-Inhibitor- Compared with Non-Nucleoside Reverse Transcriptase Inhibitor-Based Antiretroviral Therapy, IMPAACT P1068s, Substudy to P1060. PloS one, 2016;11(12):e0165140 | |
| Ferreira CR, Silber MH, Chang T, Murnick JG, Kirmse B, Cerebral Lipid Accumulation Detected by MRS in a Child with Carnitine Palmitoyltransferase 2 Deficiency: A Case Report and Review of the Literature on Genetic Etiologies of Lipid Peaks on MRS. JIMD reports, 2016;28:69-74 | |
| De Castro M, Zand DJ, Lichter-Konecki U, Kirmse B, Severe neonatal holocarboxylase synthetase deficiency in west african siblings. JIMD reports, 2015;20:1-4 | |
| Summar ML, Koelker S, Freedenberg D, Le Mons C, Haberle J, Lee HS, Kirmse B, European Registry and Network for Intoxication Type Metabolic Diseases (E-IMD). Electronic address: http://www.e-imd.org/en/index.phtml., Members of the Urea Cycle Disorders Consortium (UCDC). Electronic address: http://rarediseasesnetwork.epi.usf.edu/ucdc/., The incidence of urea cycle disorders. Molecular genetics and metabolism, 2013 Sep-Oct;110(1-2):179-80 | |
Editorial |
| Summar M, Kirmse B, Monaco J, Mind the gap. Molecular genetics and metabolism, 2014 Sep-Oct;113(1-2):1 | |