Results 121 to 130 of about 7,812 (191)

Newborn screening for methylmalonic acidemia: insights from a retrospective analysis in Hefei, China. [PDF]

Orphanet J Rare Dis
Wang Y, Ma Q, Li W, Huang Y, Song W, Xu H, Zhu P, Hu H.   +7 more
europepmc   +1 more source

Encephalitis-like presentation of methylmalonic acidemia with homocystinuria in a postpartum woman: a case report. [PDF]

Front Psychiatry
Wang Q, Ji Z, Wang Y, Qi Z.
europepmc   +1 more source

Methylmalonic Acidemia in Mainland China [PDF]

Annals of Nutrition and Metabolism, 2011
openaire   +2 more sources

Acute Neurological Complications After Transplantation in Methylmalonic Acidemia: A 35-Patient French Cohort. [PDF]

J Inherit Metab Dis
Vissac A, Sarda E, Roux CJ, Schiff M, Bérat CM, Bouchereau J, Arnoux JB, de Puyraimond C, Gaschignard M, Mekdade T, Cucinotta U, Mayer C, Barbier V, Benoist JF, Oualha M, Capito C, Chardot C, Dao M, Servais A, Francoz C, Dehoux L, Lacaille F, Desguerre I, Boddaert N, de Lonlay P, Brassier A.   +25 more
europepmc   +1 more source

Modeling Inherited Methylmalonic Acidemia Using Isogenic Human Induced Pluripotent Stem Cell-Derived Hepatocytes with Mutations in <i>Methylmalonyl-CoA Mutase</i>. [PDF]

MicroPubl Biol
Pournasr B, Duncan S.
europepmc   +1 more source

Fibroblast growth factor 21 and growth differentiation factor 15 as biomarkers for oxidative stress in children with methylmalonic acidemia. [PDF]

BMC Pediatr
Abd Elbaky MA, Shehata M, Abdelkhalek K, Girgis MY, Elmonem MA.   +4 more
europepmc   +1 more source

Methylmalonic acidemia with homocystinuria [PDF]

, 2020
openaire   +1 more source

Case Report: Carglumic acid accelerates ammonia clearance in a neonate with methylmalonic acidemia. [PDF]

Front Pediatr
Ma Q, Luo Y, Zhang X, Xu L, Shi D, Shi M, Yu D.   +6 more
europepmc   +1 more source

Dissecting the effect of mitochondrial BCAT inhibition in methylmalonic acidemia. [PDF]

JCI Insight
Hemmingsen MG, Zhang GF, Ma Y, Marchuk H, Patel KR, Chen T, Li X, Chapman M, Collias S, Lopez-Terrada DH, Beasley J, Stiles AR, Chandler RJ, Venditti CP, Young SP, Barzi M, Bissig-Choisat B, Krafte D, Newgard CB, Bissig KD.   +19 more
europepmc   +1 more source

Clinical and Genetic Characterization of Isolated Methylmalonic Acidemia in Malaysian Children: Identification of Two Novel <i>MMUT</i> Variants. [PDF]

Diagnostics (Basel)
Masri M, Khalid N, Salleh N, Lua SH, Abdul Azize NA, Yakob Y, Ali EZ, Munusamy VA, Ngu LH, Lee JS, Toh TH, Habib A.   +11 more
europepmc   +1 more source