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7. Development of a signs and symptoms outcome measure for caregivers of patients with methylmalonic acidemia and propionic acidemia (MMAPAQ). Sikirica V; Schwartz EJ; Vockley J; Stagni K; Bellenger MA; Banerjee G; Durgam N; Moshkovich O Mol Genet Metab; 2024; 143(1-2):108577. PubMed ID: 39303317 [TBL] [Abstract][Full Text] [Related]
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9. Spectrum of ocular manifestations in cobalamin C and cobalamin A types of methylmalonic acidemia. Ku CA; Ng JK; Karr DJ; Reznick L; Harding CO; Weleber RG; Pennesi ME Ophthalmic Genet; 2016 Dec; 37(4):404-414. PubMed ID: 26979128 [TBL] [Abstract][Full Text] [Related]
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12. Biomarkers for drug development in propionic and methylmalonic acidemias. Longo N; Sass JO; Jurecka A; Vockley J J Inherit Metab Dis; 2022 Mar; 45(2):132-143. PubMed ID: 35038174 [TBL] [Abstract][Full Text] [Related]
13. Evaluation of long-term effectiveness of the use of carglumic acid in patients with propionic acidemia (PA) or methylmalonic acidemia (MMA): study protocol for a randomized controlled trial. Nashabat M; Obaid A; Al Mutairi F; Saleh M; Elamin M; Ahmed H; Ababneh F; Eyaid W; Alswaid A; Alohali L; Faqeih E; Aljeraisy M; Hussein MA; Alasmari A; Alfadhel M BMC Pediatr; 2019 Jun; 19(1):195. PubMed ID: 31196016 [TBL] [Abstract][Full Text] [Related]
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18. Ocular manifestations of cobalamin C type methylmalonic aciduria with homocystinuria. Fuchs LR; Robert M; Ingster-Moati I; Couette L; Dufier JL; de Lonlay P; Brodie SE J AAPOS; 2012 Aug; 16(4):370-5. PubMed ID: 22929452 [TBL] [Abstract][Full Text] [Related]
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