Results 101 to 110 of about 12,610 (204)

Transcriptome analysis reveals a new insights toward molecular mechanisms of Methylmalonic acidemia in hepatocytes [PDF]

, 2023
Zhilei Zhang, Xin Wang, Yanyun Wang, Yahong Li, Peiying Yang, Yun Sun, Tao Jiang   +6 more
openalex   +1 more source

Methylmalonic Acidemia with Renal Involvement: A Case Report and Review of Literature

Saudi Journal of Kidney Diseases and Transplantation, 2001
Methylmalonic acidemia (MMA) is an inborn error of metabolism that results in the accumulation in blood, and increased excretion in the urine of, methylmalonic acid.
Srinivas K, Want Mohammed, Freigoun Osama, Balakrishna N   +3 more
doaj  

Long‐Term Outcomes of Living Donor Liver Transplantation for Methylmalonic Acidemia

Pediatric Transplantation
Despite early diagnosis and medical interventions, patients with methylmalonic acidemia (MMA) suffer from multi‐organ damage and recurrent metabolic decompensations.
R. Minnee, S. Sakamoto, A. Fukuda, H. Uchida, K. Hirukawa, Masaki Honda, Shinya Okumura, Takashi Ito, T. U. Yılmaz, Yitian Fang, Toru Ikegami, Kwang-Woong Lee, M. Kasahara   +12 more
semanticscholar   +1 more source

Refractory Myoclonus as a Presentation of Metabolic Stroke in A Child With Cobalamin B Methylmalonic Acidemia After Liver and Kidney Transplant

, 2022
Valerie G. Olson, Irene J. Chang, J. Lawrence Merritt, Dararat Mingbunjerdsuk   +3 more
openalex   +1 more source

Methylmalonic Aciduria in Children: Clinical Recommendations

Педиатрическая фармакология, 2017
Methylmalonic acidemia (aciduria) is an inherited metabolic disturbance from the group of organic acidemias (acidurias). The article presents etiopathogenetic, epidemiological, diagnostic, and therapeutic aspects of the problem.
Alexander A. Baranov, Leyla S. Namasova-Baranova, Tatyana E. Borovik, Tatyana V. Bushueva, Elena A. Vishneva, Oksana V. Globa, Nataliya V. Zhurkova, Elena Yu. Zakharova, Natal’ya G. Zvonkova, Lyudmila M. Kuzenkova, Sergei I. Kutsev, Svetlana V. Mikhailova, Ekaterina A. Nikolaeva, Petr V. Novikov, Alexander A. Pushkov, Kirill V. Savostianov, Liliya R. Selimzyanova   +16 more
doaj   +1 more source

Late-onset methylmalonic acidemia and homocysteinemia.

Nutricion hospitalaria, 2021
Introduction: cobalamin C (Cbl C) deficiency is the most common defect in intracellular cobalamin metabolism, associated with methylmalonic acidemia and homocystinuria. Its late clinical presentation is heterogeneous and may lead to a diagnostic delay. Case report: we report the case of a 45-year-old man with a 20-year history of chronic kidney disease
Brox-Torrecilla,Noemi, Arhip,Loredana, Miguélez-González,María, Castellano-Gasch,Sandra, Contreras-Chicote,Ana, Rodríguez-Ferrero,María Luisa, Motilla-de la Cámara,Marta Luisa, Serrano-Moreno,Clara, Cuerda Compes,Cristina   +8 more
openaire   +2 more sources

Metronidazole: Long Term Therapy for Methylmalonic Acidemia? 742 [PDF]

, 1998
Catherine Dinauer, Kathryn Camp, OM Rennert, Gary L. Francis   +3 more
openalex   +1 more source

Impaired Health‐Related Quality of Life in Children and Families Affected by Methylmalonic Acidemia [PDF]

, 2015
Kimberly Splinter, Anna‐Kaisa Niemi, Rachel Cox, Julia Platt, M. K. SHAH, Gregory M. Enns, Mureo Kasahara, Jonathan A. Bernstein   +7 more
openalex   +1 more source

Methylmalonic Acidemia with Novel MUT Gene Mutations

Case Reports in Genetics, 2017
A 5-year-old boy presented with recurrent episodes of fever, feeding problems, lethargy, from the age of 11 months, and poor weight gain. He was admitted and evaluated for metabolic causes and diagnosed as having methylmalonic acidemia (MMA).
Inusha Panigrahi, Savita Bhunwal, Harish Varma, Simranjeet Singh   +3 more
doaj   +1 more source

Acute Lymphoblastic Leukemia in Combined Methylmalonic Acidemia and Homocysteinemia (cblC Type): A Case Report and Literature Review [PDF]

, 2022
Jun Zhu, Shuisen Wan, Xueqi Zhao, Binlu Zhu, Yuan Lv, Hongkun Jiang   +5 more
openalex   +1 more source