Results 91 to 100 of about 3,232 (144)

Pulmonary fungal infection in a neonate with methylmalonic acidemia: A case report. [PDF]

World J Clin Cases, 2023
Gao CF, Wang D, Zeng LK, Tao XW.
europepmc   +1 more source

Case report: Desquamating dermatitis, bilateral cerebellar lesions in a late-onset methylmalonic acidemia patient [PDF]

, 2023
Qihua Chen, Jianguang Tang, Hainan Zhang, Lixia Qin   +3 more
openalex   +1 more source

A Study on the Humoral and Complement Immune System of Patients with Organic Acidemia

Iranian Journal of Allergy, Asthma and Immunology, 2015
Patients with organic acidemia are prone to different infections, which lead to acidosis episodes. Some studies have evaluated the status of immune system in acidotic phase in these patients, but to the best of our knowledge no study has evaluated the ...
Faegheh Alizadeh Najjarbashi, Mehrnaz Mesdaghi, Mohammadreza Alaei, Marjan Shakiba, Aliakbar Jami, Farah Ghadimi   +5 more
doaj  

The follow-up of Chinese patients in mut-type methylmalonic acidemia identified through expanded newborn screening [PDF]

, 2022
Shiying Ling, Shengnan Wu, Ruixue Shuai, Yue Yu, Wenjuan Qiu, Haiyan Wei, Chiju Yang, Peng Xu, Hui Zou, Jizhen Feng, Tingting Niu, Haili Hu, Huiwen Zhang, Lili Liang, Yu Wang, Ting Chen, Feng Xu, Xuefan Gu, Lianshu Han   +18 more
openalex   +1 more source

Methylmalonic Acidemia: A Review of Cases in Jordan. [PDF]

Cureus
Alakil M, Megdadi NA, Alghonemeen L, Alrababah S, Altawarah N, Alqyam S.   +5 more
europepmc   +1 more source

Isolated methylmalonic acidemia with unusual presentation mimicking diabetic ketoacidosis

, 2015
Prapai Dejkhamron, Karn Wejapikul, Kevalee Unachak, Phannee Sawangareetrakul, Pranoot Tanpaiboon, Duangrurdee Wattanasirichaigoon   +5 more
openalex   +2 more sources

Neuropsychological endpoints for clinical trials in methylmalonic acidemia and propionic acidemia: A pilot study

, 2023
Kimberly A. Chapman, Devon B. MacEachern, Gerald F. Cox, Mavis Waller, Jeanine Fogarty, Suzanne Granger, Miganush Stepanians, Susan E. Waisbren   +7 more
openalex   +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

527 DRAMATIC CLINICAL RESPONSE TO COFACTOR THERAPY IN ADVANCED METHYLMALONIC ACIDEMIA (MMA) [PDF]

, 1978
Gregory A. Grabowski, Francis S. Wright, Robert J. Desnick   +2 more
openalex   +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