ImmTOR nanoparticles enhance AAV transgene expression after initial and repeat dosing in a mouse model of methylmalonic acidemia by Petr O. Ilyinskii, Alicia M. Michaud, Gina L. Rizzo, Christopher J. Roy, Sheldon S. Leung, Stephanie L. Elkins, Teresa Capela, Aparajita Chowdhury, Lina Li, Randy J. Chandler, Irini Manoli, Eva Andres-Mateos, Lloyd P.M. Johnston, Luk H. Vandenberghe, Charles P. Venditti, Takashi Kei Kishimoto

“…ImmTOR and AAV Anc80 encoding the methylmalonyl-coenzyme A (CoA) mutase (MMUT) combination was tested in a mouse model of methylmalonic acidemia, a disease caused by mutations in the MMUT gene. …”
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Methylmalonic acidemia/propionic acidemia – the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups by Tzu-Hung Chu, Yin-Hsiu Chien, Hsiang-Yu Lin, Hsuan-Chieh Liao, Huey-Jane Ho, Chih-Jou Lai, Chuan-Chi Chiang, Niang-Cheng Lin, Chia-Feng Yang, Wuh-Liang Hwu, Ni-Chung Lee, Shuan-Pei Lin, Chin-Su Liu, Rey-Heng Hu, Ming-Chih Ho, Dau-Ming Niu

Subjects: “…Methylmalonic acidemia…”
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Prenatal diagnosis of combined methylmalonic acidemia and homocystinuria cobalamin C type using clinical exome sequencing and targeted gene analysis by Narae Hwang, Ja‐Hyun Jang, Eun‐Hae Cho, Rihwa Choi, Suk‐Joo Choi, Hyung‐Doo Park

Subjects: “…combined methylmalonic acidemia with homocystinuria…”
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Case Report: A Case of Adult Methylmalonic Acidemia With Bilateral Cerebellar Lesions Caused by a New Mutation in MMACHC Gene by Shengnan Wang, Xu Wang, Jianxin Xi, Wenzhuo Yang, Mingqin Zhu

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Pilot Study on Neonatal Screening for Methylmalonic Acidemia Caused by Defects in the Adenosylcobalamin Synthesis Pathway and Homocystinuria Caused by Defects in Homocysteine Remethylation by Reiko Kagawa, Go Tajima, Takako Maeda, Fumiaki Sakura, Akari Nakamura-Utsunomiya, Keiichi Hara, Yutaka Nishimura, Miori Yuasa, Yosuke Shigematsu, Hiromi Tanaka, Saki Fujihara, Chiyoko Yoshii, Satoshi Okada

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Methylmalonic acid levels in serum, exosomes, and urine and its association with cblC type methylmalonic acidemia-induced cognitive impairment by Shuqi Sun, Hong Jin, Yu Rong, Wenqi Song, Qiliang Li

Subjects: “…methylmalonic acidemia…”
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Spectrum of clinical manifestation of methylmalonic acidemia and homocystinuria in a family of six siblings: novel combination of transcobalamin receptor defect (CD320) and cblC deficiency (MMACHC) by Nadia Waheed, Zafar Fayyaz, Ahmad Imran

Subjects: “…Methylmalonic acidemia…”
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Continuous Renal Replacement Therapy for Two Neonates With Hyperammonemia by Christopher Markham, Caroline Williams, Cory Miller, Dorothy K. Grange, T. Keefe Davis, Kenneth E. Remy, Kenneth E. Remy

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Generation of induced pluripotent stem cells named SMBCi019-A from a methylmalonic acidemia patient carrying the MMACHC mutations by Jing Luan, Hui Zou, Yazhou Cui, Jing Wang, Zhenzhong Han, Genglin Zhang, Jinxiang Han

“…Methylmalonic acidemia(MMA) is an autosomal recessive hereditary disease caused by methylmalonyl-CoA mutase defect or its coenzyme cobalamin metabolism defect. …”
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Adult-onset combined methylmalonic acidemia and hyperhomocysteinemia, cblC type with aortic dissection and acute kidney injury: a case report by Qiufa Hao, Bei Jiang, Yuying Zhao, Zhao Hu

Subjects: “…Methylmalonic acidemia…”
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Systematic literature review and meta-analysis on the epidemiology of methylmalonic acidemia (MMA) with a focus on MMA caused by methylmalonyl-CoA mutase (mut) deficiency by Tímea Almási, Lin T. Guey, Christine Lukacs, Kata Csetneki, Zoltán Vokó, Tamás Zelei

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Neurotoxicity including posterior reversible encephalopathy syndrome after initiation of calcineurin inhibitors in transplanted methylmalonic acidemia patients: Two case reports and review of the literature by Femke Molema, Monique Williams, Janneke Langendonk, Sarwa Darwish‐Murad, Jacqueline van deWetering, Ed Jacobs, Willem Onkenhout, Esther Brusse, Anke van derEerden, Margreet Wagenmakers

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Different mutations in the MMUT gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut‐type methylmalonic acidemia: A retrospective study by Yue Yu, Ruixue Shuai, Lili Liang, Wenjuan Qiu, Linghua Shen, Shengnan Wu, Haiyan Wei, Yongxing Chen, Chiju Yang, Peng Xu, Xigui Chen, Hui Zou, Jizhen Feng, Tingting Niu, Haili Hu, Jun Ye, Huiwen Zhang, Deyun Lu, Zhuwen Gong, Xia Zhan, Wenjun Ji, Xuefan Gu, Lianshu Han

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Case report: An asymptomatic mother with an inborn error of cobalamin metabolism (cblC) detected through high homocysteine levels during prenatal diagnosis by Yu-Peng Liu, Yu-Peng Liu, Ru-Xuan He, Zhe-Hui Chen, Lu-Lu Kang, Jin-Qing Song, Yi Liu, Chun-Yan Shi, Jun-Ya Chen, Hui Dong, Yao Zhang, Meng-Qiu Li, Ying Jin, Jiong Qin, Yan-Ling Yang

Subjects: “…methylmalonic acidemia…”
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Long-term N-carbamylglutamate treatment of hyperammonemia in patients with classic organic acidemias by Ertugrul Kiykim, Ozge Oguz, Cisem Duman, Tanyel Zubarioglu, Mehmet Serif Cansever, Ayse Cigdem Aktuglu Zeybek

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Chronic postnatal administration of methylmalonic acid provokes a decrease of myelin content and ganglioside N-acetylneuraminic acid concentration in cerebrum of young rats by A.M. Brusque, L. Rotta, L.F. Pettenuzzo, D. Junqueira, C.V. Schwarzbold, A.T. Wyse, C.M.D. Wannmacher, C.S. Dutra-Filho, M. Wajner

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Acrodermatitis enteropathica-like eruption by Farah El Hadadi, MD, Line Mezni, MD, Nadia Ismaili, MD, PhD, Laila Benzekri, MD, PhD, Karima Senouci, MD, PhD

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Generation of a Human iPSC line (SDQLCHi021-A) from a patient with methylmalonic acidemia cblC type carrying compound heterozygous mutations in MMAHC gene by Jingyun Guan, Zilong Li, Haiyan Zhang, Xiaomeng Yang, Yanyan Ma, Yue Li, Rui Dong, Zhongtao Gai, Yi Liu

“…Methylmalonic acidemia and homocystinuria, cblC type is a rare autosomal recessive inheritance disease. …”
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A SUCLG1 mutation in a patient with mitochondrial DNA depletion and congenital anomalies by Megan L. Landsverk, Victor Wei Zhang, Lee-Jun C. Wong, Hans C. Andersson

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Late-onset cobalamin C deficiency type in adult with cognitive and behavioral disturbances and significant cortical atrophy and cerebellar damage in the MRI: a case report by Miao Sun, Yingjie Dai

Subjects: “…methylmalonic acidemia…”
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