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Infantile Spasms in Inborn Errors of Metabolism: Diagnostic and Therapeutic Considerations. J Child Neurol. 2025 Nov 12; 8830738251391974. Buraniqi E, Lee HT, Sen K, Chapman KA, Grant CL, Chen WL, Gropman AL. PMID: 41223075.
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Propionic acidemia and methylmalonic aciduria: A portrait of the first 3 years-Admissions and complications. Mol Genet Metab. 2025 Dec; 146(4):109289. Chapman KA, Ah Mew N, Mickle N, Starin D, MacLeod E. PMID: 41232196.
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Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling. Am J Hum Genet. 2025 Oct 02; 112(10):2381-2401. Chapman KA, Ullah F, Yahiku ZA, Khan S, Kodiparthi SV, Kellaris G, White HG, Powell AT, Correia SP, Stödberg T, Sofocleous C, Marinakis NM, Fryssira H, Tsoutsou E, Traeger-Synodinos J, Accogli A, Sciruicchio V, Salpietro V, Striano P, Muss C, Keren B, Heron D, Berger SI, Pond KW, Sirimulla S, Davis EE, Bhattacharya MRC. PMID: 40885185; PMCID: PMC12440709.
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Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling. medRxiv. 2025 Aug 22. Chapman KA, Ullah F, Yahiku ZA, Khan S, Kodiparthi SV, Kellaris G, White HG, Powell AT, Correia SP, Stödberg T, Sofokleous C, Marinakis NM, Fryssira H, Tsoutsou E, Traeger-Synodinos J, Accogli A, Sciruicchio V, Salpietro V, Striano P, Muss C, Keren B, Heron D, Berger SI, Pond KW, Sirimulla S, Davis EE, Bhattacharya MR. PMID: 39006436; PMCID: PMC11245063.
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A novel, high throughput, and low-cost method for the detection of 40 amines relevant to inborn errors of metabolism, in under 60 min, using reverse phase high performance liquid chromatography. Mol Genet Metab Rep. 2025 Jun; 43:101202. Wilson KA, Zhou Y, Cunningham G, Chapman K, Summar M, Regier D. PMID: 40110492; PMCID: PMC11919291.
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Case report: Two unexpected cases of DGUOK-related mitochondrial DNA depletion syndrome presenting with hyperinsulinemic hypoglycemia. Front Endocrinol (Lausanne). 2023; 14:1268135. Guzman H, Yazdani S, Harmon JL, Chapman KA, Vitola B, Pyle L, McKnight H, Sigal W, Lord K, De Leon DD, Merchant N, Ganetzky R. PMID: 38027095; PMCID: PMC10646319.
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Dental complications in homocystinurias. Mol Genet Metab Rep. 2023 Sep; 36:100999. Chapman KA, Bartke D, Vogel-Farley V, Cobb M, Chapman M. PMID: 37637152; PMCID: PMC10451019.
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Neuropsychological endpoints for clinical trials in methylmalonic acidemia and propionic acidemia: A pilot study. Mol Genet Metab Rep. 2023 Mar; 34:100953. Chapman KA, MacEachern D, Cox GF, Waller M, Fogarty J, Granger S, Stepanians M, Waisbren S. PMID: 36659999; PMCID: PMC9842695.
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Solid organ transplantation in methylmalonic acidemia and propionic acidemia: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2023 02; 25(2):100337. Sen K, Burrage LC, Chapman KA, Ginevic I, Mazariegos GV, Graham BH, ACMG Therapeutics Committee. Electronic address: documents@acmg.net. PMID: 36534118.
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Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision. J Inherit Metab Dis. 2023 05; 46(3):482-519. Boy N, Mühlhausen C, Maier EM, Ballhausen D, Baumgartner MR, Beblo S, Burgard P, Chapman KA, Dobbelaere D, Heringer-Seifert J, Fleissner S, Grohmann-Held K, Hahn G, Harting I, Hoffmann GF, Jochum F, Karall D, Konstantopoulous V, Krawinkel MB, Lindner M, Märtner EMC, Nuoffer JM, Okun JG, Plecko B, Posset R, Sahm K, Scholl-Bürgi S, Thimm E, Walter M, Williams M, Vom Dahl S, Ziagaki A, Zschocke J, Kölker S. PMID: 36221165.
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Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases-Data from the E-IMD consortium. J Inherit Metab Dis. 2023 03; 46(2):220-231. Mütze U, Gleich F, Baric I, Baumgartner M, Burlina A, Chapman KA, Chien YH, Cortès-Saladelafont E, De Laet C, Dobbelaere D, Eysken F, Gautschi M, Santer R, Häberle J, Joaquín C, Karall D, Lindner M, Lund AM, Mühlhausen C, Murphy E, Roland D, Ruiz Gomez A, Skouma A, Grünert SC, Wagenmakers M, Garbade SF, Kölker S, Boy N. PMID: 36266255; PMCID: PMC9874390.
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Domino liver transplantation: Expanding the liver donor pool to the pediatric recipient. Liver Transpl. 2022 12; 28(12):1947-1950. Ekong UD, Reddy S, Yazigi N, Khan K, Kaufman S, Chapman KA, Leon E, Mew NA, Regier D, MacLeod E, Kroemer A, Girlanda R, Hawksworth J, Matsumoto CS, Fishbein TM. PMID: 35689402.
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Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry. Am J Med Genet A. 2022 09; 188(9):2738-2749. Billington CJ, Chapman KA, Leon E, Meltzer BW, Berger SI, Olson M, Figler RA, Hoang SA, Wanxing C, Wamhoff BR, Collado MS, Cusmano-Ozog K. PMID: 35799415; PMCID: PMC9542135.
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LPIN1 rhabdomyolysis: A single site cohort description and treatment recommendations. Mol Genet Metab Rep. 2022 Mar; 30:100844. Kanderi N, Kirmse B, Regier DS, Chapman KA. PMID: 35242575; PMCID: PMC8856908.
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From trash to treasure! The importance of preserving rare disease medical waste for basic research. Mol Genet Metab. 2022 01; 135(1):1-2. Chapman KA. PMID: 34973897.
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A novel small molecule approach for the treatment of propionic and methylmalonic acidemias. Mol Genet Metab. 2021 05; 133(1):71-82. Armstrong AJ, Collado MS, Henke BR, Olson MW, Hoang SA, Hamilton CA, Pourtaheri TD, Chapman KA, Summar MM, Johns BA, Wamhoff BR, Reardon JE, Figler RA. PMID: 33741272; PMCID: PMC9109253.
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Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision. J Inherit Metab Dis. 2021 05; 44(3):566-592. Forny P, Hörster F, Ballhausen D, Chakrapani A, Chapman KA, Dionisi-Vici C, Dixon M, Grünert SC, Grunewald S, Haliloglu G, Hochuli M, Honzik T, Karall D, Martinelli D, Molema F, Sass JO, Scholl-Bürgi S, Tal G, Williams M, Huemer M, Baumgartner MR. PMID: 33595124; PMCID: PMC8252715.
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Use of dexamethasone in idiopathic, acute pediatric rhabdomyolysis. Am J Med Genet A. 2021 02; 185(2):500-507. Summerlin ML, Regier DS, Fraser JL, Chapman KA, Kafashzadeh D, Billington C, Kisling M, Grochowsky A, Ah Mew N, Shur N. PMID: 33300687.
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Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia Type 2. Am J Med Genet A. 2020 10; 182(10):2426-2431. Xiao C, Astiazaran-Symonds E, Basu S, Kisling M, Scaglia F, Chapman KA, Wang Y, Vockley J, Ferreira CR. PMID: 32804429; PMCID: PMC8543298.
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Biochemical and anaplerotic applications of in vitro models of propionic acidemia and methylmalonic acidemia using patient-derived primary hepatocytes. Mol Genet Metab. 2020 07; 130(3):183-196. Collado MS, Armstrong AJ, Olson M, Hoang SA, Day N, Summar M, Chapman KA, Reardon J, Figler RA, Wamhoff BR. PMID: 32451238; PMCID: PMC7337260.
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Genetic considerations for adults with congenital heart disease. Am J Med Genet C Semin Med Genet. 2020 03; 184(1):149-153. Ito S, Chapman KA, Kisling M, John AS. PMID: 32052945.
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Tricarboxylic acid cycle enzyme activities in a mouse model of methylmalonic aciduria. Mol Genet Metab. 2019 12; 128(4):444-451. Wongkittichote P, Cunningham G, Summar ML, Pumbo E, Forny P, Baumgartner MR, Chapman KA. PMID: 31648943; PMCID: PMC6903684.
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Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsy. PLoS One. 2019; 14(3):e0214250. Kahn-Kirby AH, Amagata A, Maeder CI, Mei JJ, Sideris S, Kosaka Y, Hinman A, Malone SA, Bruegger JJ, Wang L, Kim V, Shrader WD, Hoff KG, Latham JC, Ashley EA, Wheeler MT, Bertini E, Carrozzo R, Martinelli D, Dionisi-Vici C, Chapman KA, Enns GM, Gahl W, Wolfe L, Saneto RP, Johnson SC, Trimmer JK, Klein MB, Holst CR. PMID: 30921410; PMCID: PMC6438538.
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Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry. J Inherit Metab Dis. 2019 11; 42(6):1162-1175. Molema F, Gleich F, Burgard P, van der Ploeg AT, Summar ML, Chapman KA, Baric I, Lund AM, Kölker S, Williams M, Additional individual contributors from E-IMD. PMID: 30734935.
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Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment. Mol Genet Metab. 2019 04; 126(4):397-405. Molema F, Gleich F, Burgard P, van der Ploeg AT, Summar ML, Chapman KA, Lund AM, Rizopoulos D, Kölker S, Williams M, Additional individual contributors from E-IMD. PMID: 30827756.
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Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry. J Inherit Metab Dis. 2019 03; 42(2):333-352. Huemer M, Diodato D, Martinelli D, Olivieri G, Blom H, Gleich F, Kölker S, Kožich V, Morris AA, Seifert B, Froese DS, Baumgartner MR, Dionisi-Vici C, EHOD consortium, Martin CA, Baethmann M, Ballhausen D, Blasco-Alonso J, Boy N, Bueno M, Burgos Peláez R, Cerone R, Chabrol B, Chapman KA, Couce ML, Crushell E, Dalmau Serra J, Diogo L, Ficicioglu C, García Jimenez MC, García Silva MT, Gaspar AM, Gautschi M, González-Lamuño D, Gouveia S, Grünewald S, Hendriksz C, Janssen MCH, Jesina P, Koch J, Konstantopoulou V, Lavigne C, Lund AM, Martins EG, Meavilla Olivas S, Mention K, Mochel F, Mundy H, Murphy E, Paquay S, Pedrón-Giner C, Ruiz Gómez MA, Santra S, Schiff M, Schwartz IV, Scholl-Bürgi S, Servais A, Skouma A, Tran C, Vives Piñera I, Walter J, Weisfeld-Adams J. PMID: 30773687.
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Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening data. Mol Genet Metab Rep. 2018 Jun; 15:106-109. Chapman KA, Gramer G, Viall S, Summar ML. PMID: 30023298; PMCID: PMC6047110.
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Propionyl-CoA carboxylase - A review. Mol Genet Metab. 2017 12; 122(4):145-152. Wongkittichote P, Ah Mew N, Chapman KA. PMID: 29033250; PMCID: PMC5725275.
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Do the data really support ordering fragile X testing as a first-tier test without clinical features? Genet Med. 2017 12; 19(12):1317-1322. Weinstein V, Tanpaiboon P, Chapman KA, Ah Mew N, Hofherr S. PMID: 28541279; PMCID: PMC5702277.
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The database of the PREDICTS (Projecting Responses of Ecological Diversity In Changing Terrestrial Systems) project. Ecol Evol. 2017 01; 7(1):145-188. Hudson LN, Newbold T, Contu S, Hill SL, Lysenko I, De Palma A, Phillips HR, Alhusseini TI, Bedford FE, Bennett DJ, Booth H, Burton VJ, Chng CW, Choimes A, Correia DL, Day J, Echeverría-Londoño S, Emerson SR, Gao D, Garon M, Harrison ML, Ingram DJ, Jung M, Kemp V, Kirkpatrick L, Martin CD, Pan Y, Pask-Hale GD, Pynegar EL, Robinson AN, Sanchez-Ortiz K, Senior RA, Simmons BI, White HJ, Zhang H, Aben J, Abrahamczyk S, Adum GB, Aguilar-Barquero V, Aizen MA, Albertos B, Alcala EL, Del Mar Alguacil M, Alignier A, Ancrenaz M, Andersen AN, Arbeláez-Cortés E, Armbrecht I, Arroyo-Rodríguez V, Aumann T, Axmacher JC, Azhar B, Azpiroz AB, Baeten L, Bakayoko A, Báldi A, Banks JE, Baral SK, Barlow J, Barratt BI, Barrico L, Bartolommei P, Barton DM, Basset Y, Batáry P, Bates AJ, Baur B, Bayne EM, Beja P, Benedick S, Berg Å, Bernard H, Berry NJ, Bhatt D, Bicknell JE, Bihn JH, Blake RJ, Bobo KS, Bóçon R, Boekhout T, Böhning-Gaese K, Bonham KJ, Borges PA, Borges SH, Boutin C, Bouyer J, Bragagnolo C, Brandt JS, Brearley FQ, Brito I, Bros V, Brunet J, Buczkowski G, Buddle CM, Bugter R, Buscardo E, Buse J, Cabra-García J, Cáceres NC, Cagle NL, Calviño-Cancela M, Cameron SA, Cancello EM, Caparrós R, Cardoso P, Carpenter D, Carrijo TF, Carvalho AL, Cassano CR, Castro H, Castro-Luna AA, Rolando CB, Cerezo A, Chapman KA, Chauvat M, Christensen M, Clarke FM, Cleary DF, Colombo G, Connop SP, Craig MD, Cruz-López L, Cunningham SA, D'Aniello B, D'Cruze N, da Silva PG, Dallimer M, Danquah E, Darvill B, Dauber J, Davis AL, Dawson J, de Sassi C, de Thoisy B, Deheuvels O, Dejean A, Devineau JL, Diekötter T, Dolia JV, Domínguez E, Dominguez-Haydar Y, Dorn S, Draper I, Dreber N, Dumont B, Dures SG, Dynesius M, Edenius L, Eggleton P, Eigenbrod F, Elek Z, Entling MH, Esler KJ, de Lima RF, Faruk A, Farwig N, Fayle TM, Felicioli A, Felton AM, Fensham RJ, Fernandez IC, Ferreira CC, Ficetola GF, Fiera C, Filgueiras BK, Firincioglu HK, Flaspohler D, Floren A, Fonte SJ, Fournier A, Fowler RE, Franzén M, Fraser LH, Fredriksson GM, Freire GB, Frizzo TL, Fukuda D, Furlani D, Gaigher R, Ganzhorn JU, García KP, Garcia-R JC, Garden JG, Garilleti R, Ge BM, Gendreau-Berthiaume B, Gerard PJ, Gheler-Costa C, Gilbert B, Giordani P, Giordano S, Golodets C, Gomes LG, Gould RK, Goulson D, Gove AD, Granjon L, Grass I, Gray CL, Grogan J, Gu W, Guardiola M, Gunawardene NR, Gutierrez AG, Gutiérrez-Lamus DL, Haarmeyer DH, Hanley ME, Hanson T, Hashim NR, Hassan SN, Hatfield RG, Hawes JE, Hayward MW, Hébert C, Helden AJ, Henden JA, Henschel P, Hernández L, Herrera JP, Herrmann F, Herzog F, Higuera-Diaz D, Hilje B, Höfer H, Hoffmann A, Horgan FG, Hornung E, Horváth R, Hylander K, Isaacs-Cubides P, Ishida H, Ishitani M, Jacobs CT, Jaramillo VJ, Jauker B, Hernández FJ, Johnson MF, Jolli V, Jonsell M, Juliani SN, Jung TS, Kapoor V, Kappes H, Kati V, Katovai E, Kellner K, Kessler M, Kirby KR, Kittle AM, Knight ME, Knop E, Kohler F, Koivula M, Kolb A, Kone M, Korösi Á, Krauss J, Kumar A, Kumar R, Kurz DJ, Kutt AS, Lachat T, Lantschner V, Lara F, Lasky JR, Latta SC, Laurance WF, Lavelle P, Le Féon V, LeBuhn G, Légaré JP, Lehouck V, Lencinas MV, Lentini PE, Letcher SG, Li Q, Litchwark SA, Littlewood NA, Liu Y, Lo-Man-Hung N, López-Quintero CA, Louhaichi M, Lövei GL, Lucas-Borja ME, Luja VH, Luskin MS, MacSwiney G MC, Maeto K, Magura T, Mallari NA, Malone LA, Malonza PK, Malumbres-Olarte J, Mandujano S, Måren IE, Marin-Spiotta E, Marsh CJ, Marshall EJ, Martínez E, Martínez Pastur G, Moreno Mateos D, Mayfield MM, Mazimpaka V, McCarthy JL, McCarthy KP, McFrederick QS, McNamara S, Medina NG, Medina R, Mena JL, Mico E, Mikusinski G, Milder JC, Miller JR, Miranda-Esquivel DR, Moir ML, Morales CL, Muchane MN, Muchane M, Mudri-Stojnic S, Munira AN, Muoñz-Alonso A, Munyekenye BF, Naidoo R, Naithani A, Nakagawa M, Nakamura A, Nakashima Y, Naoe S, Nates-Parra G, Navarrete Gutierrez DA, Navarro-Iriarte L, Ndang'ang'a PK, Neuschulz EL, Ngai JT, Nicolas V, Nilsson SG, Noreika N, Norfolk O, et al. PMID: 28070282; PMCID: PMC5215197.
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Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency. J Inherit Metab Dis. 2017 01; 40(1):49-74. Morris AA, Kožich V, Santra S, Andria G, Ben-Omran TI, Chakrapani AB, Crushell E, Henderson MJ, Hochuli M, Huemer M, Janssen MC, Maillot F, Mayne PD, McNulty J, Morrison TM, Ogier H, O'Sullivan S, Pavlíková M, de Almeida IT, Terry A, Yap S, Blom HJ, Chapman KA. PMID: 27778219; PMCID: PMC5203861.
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Recapitulation of metabolic defects in a model of propionic acidemia using patient-derived primary hepatocytes. Mol Genet Metab. 2016 Mar; 117(3):355-362. Chapman KA, Collado MS, Figler RA, Hoang SA, Armstrong AJ, Cui W, Purdy M, Simmers MB, Yazigi NA, Summar ML, Wamhoff BR, Dash A. PMID: 26740382; PMCID: PMC4852394.
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Impact of age at onset and newborn screening on outcome in organic acidurias. J Inherit Metab Dis. 2016 05; 39(3):341-353. Heringer J, Valayannopoulos V, Lund AM, Wijburg FA, Freisinger P, Baric I, Baumgartner MR, Burgard P, Burlina AB, Chapman KA, I Saladelafont EC, Karall D, Mühlhausen C, Riches V, Schiff M, Sykut-Cegielska J, Walter JH, Zeman J, Chabrol B, Kölker S, additional individual contributors of the E-IMD consortium. PMID: 26689403.
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Short-term follow-up systems for positive newborn screens in the Washington Metropolitan Area and the United States. Mol Genet Metab. 2015 Dec; 116(4):226-30. 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. PMID: 26549574.
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Gene expression in cell lines from propionic acidemia patients, carrier parents, and controls. Mol Genet Metab. 2015 Aug; 115(4):174-9. Chapman KA, Bush WS, Zhang Z. PMID: 25963861; PMCID: PMC4522369.
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The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. J Inherit Metab Dis. 2015 Nov; 38(6):1041-57. Kölker S, Garcia-Cazorla A, Cazorla AG, Valayannopoulos V, Lund AM, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Baric I, Karall D, Augoustides-Savvopoulou P, Aksglaede L, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Chabrol B, Chakrapani A, Chapman K, I Saladelafont EC, Couce ML, de Meirleir L, Dobbelaere D, Dvorakova V, Furlan F, Gleich F, Gradowska W, Grünewald S, Jalan A, Häberle J, Haege G, Lachmann R, Laemmle A, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, de Baulny HO, Ortez C, Peña-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Staufner C, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Burgard P. PMID: 25875215.
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The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype. J Inherit Metab Dis. 2015 Nov; 38(6):1059-74. Kölker S, Valayannopoulos V, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Baric I, Karall D, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Boy SP, Rasmussen MB, Burgard P, Chabrol B, Chakrapani A, Chapman K, Cortès I Saladelafont E, Couce ML, de Meirleir L, Dobbelaere D, Furlan F, Gleich F, González MJ, Gradowska W, Grünewald S, Honzik T, Hörster F, Ioannou H, Jalan A, Häberle J, Haege G, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, Murphy E, de Baulny HO, Ortez C, Pedrón CC, Pintos-Morell G, Pena-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Lund AM, Garcia-Cazorla A, Garcia Cazorla A. PMID: 25875216.
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Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect. Am J Hum Genet. 2015 Apr 02; 96(4):675-81. Simons C, Griffin LB, Helman G, Golas G, Pizzino A, Bloom M, Murphy JL, Crawford J, Evans SH, Topper S, Whitehead MT, Schreiber JM, Chapman KA, Tifft C, Lu KB, Gamper H, Shigematsu M, Taft RJ, Antonellis A, Hou YM, Vanderver A. PMID: 25817015; PMCID: PMC4385183.
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Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet J Rare Dis. 2014 Sep 02; 9:130. Baumgartner MR, Hörster F, Dionisi-Vici C, Haliloglu G, Karall D, Chapman KA, Huemer M, Hochuli M, Assoun M, Ballhausen D, Burlina A, Fowler B, Grünert SC, Grünewald S, Honzik T, Merinero B, Pérez-Cerdá C, Scholl-Bürgi S, Skovby F, Wijburg F, MacDonald A, Martinelli D, Sass JO, Valayannopoulos V, Chakrapani A. PMID: 25205257; PMCID: PMC4180313.
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Development of clinical guidelines for inborn errors of metabolism: commentary. Mol Genet Metab. 2013 Apr; 108(4):203-5. Vockley J, Chapman KA, Arnold GL. PMID: 23428739.
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Neurologic considerations in propionic acidemia. Mol Genet Metab. 2012 Jan; 105(1):10-5. Schreiber J, Chapman KA, Summar ML, Ah Mew N, Sutton VR, MacLeod E, Stagni K, Ueda K, Franks J, Island E, Matern D, Peña L, Smith B, Urv T, Venditti C, Chakarapani A, Gropman AL. PMID: 22078457.
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Acute management of propionic acidemia. Mol Genet Metab. 2012 Jan; 105(1):16-25. Chapman KA, Gropman A, MacLeod E, Stagni K, Summar ML, Ueda K, Ah Mew N, Franks J, Island E, Matern D, Pena L, Smith B, Sutton VR, Urv T, Venditti C, Chakrapani A. PMID: 22000903; PMCID: PMC4133996.
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Natural history of propionic acidemia. Mol Genet Metab. 2012 Jan; 105(1):5-9. Pena L, Franks J, Chapman KA, Gropman A, Ah Mew N, Chakrapani A, Island E, MacLeod E, Matern D, Smith B, Stagni K, Sutton VR, Ueda K, Urv T, Venditti C, Enns GM, Summar ML. PMID: 21986446.
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Chronic management and health supervision of individuals with propionic acidemia. Mol Genet Metab. 2012 Jan; 105(1):26-33. Sutton VR, Chapman KA, Gropman AL, MacLeod E, Stagni K, Summar ML, Ueda K, Ah Mew N, Franks J, Island E, Matern D, Peña L, Smith B, Urv T, Venditti C, Chakarapani A. PMID: 21963082.
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Propionic acidemia consensus conference summary. Mol Genet Metab. 2012 Jan; 105(1):3-4. Chapman KA, Summar ML. PMID: 21908219.
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