Results 51 to 60 of about 565,458 (146)

LHFPL5 splice site variant in a cat with deafness and vestibular dysfunction

Animal Genetics, Volume 56, Issue 6, December 2025.
Abstract Vestibular disorders associated with hearing loss are indicative of inner ear dysfunction. We investigated a young cat presenting with deafness and vestibular signs. Magnetic resonance imaging of the brain revealed no abnormalities. No obvious visual impairment was reported on ophthalmological examination.
Assami‐Carina Perret, Julien Guevar, Vidhya Jagannathan, Tosso Leeb   +3 more
wiley   +1 more source

Rising Inpatient Demands for Inherited Metabolic Disorders: Impact on Pediatric Capacity

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1423-1426, June 2026.
Maria Paula Silva, Kirsten Havens, Katherine Arduini, Anne Kozek, Erika Vucko, Joel Charrow, Joshua Baker, Carlos E. Prada   +7 more
wiley   +1 more source

Process optimization and characterization of ragi‐based probiotic camel milk drink for enhanced functionality

Food Biomacromolecules, Volume 2, Issue 4, Page 437-450, December 2025.
Abstract A ragi‐based probiotic camel milk drink (RPCD) had been developed employing two different probiotic bacteria, Lacticaseibacillus rhamnosus NCDC347 (RPCD‐LGG) and Limosilactobacillus fermentum NCDC141 (RPCD‐LF). The product was optimized using a two‐factor Central Composite Rotatable Design to enhance its sensory and antioxidant properties. The
Aayushi Mishra, Priya Dhyani, Chhaya Goyal, Shweta Kumari, Kamal Yadav, Ashwani Kumar, Baljeet Singh Saharan   +6 more
wiley   +1 more source

Impact of HIV Infection and Zidovudine Therapy on RBC Parameters and Urine Methylmalonic Acid Levels [PDF]

, 2016
Background. Anaemia is a common complication of human immunodeficiency virus (HIV) infection. The aim of this study was to investigate the impact of HIV infection and zidovudine on red blood cells (RBC) parameters and urine methylmalonic acid (UMMA ...
Ebele Uche, Vincent Osunkalu, Tamunomieibi Wakama, Adewumi Adediran, Sarah John-Olabode, Akinsegun Akinbami, Sulaimon Akanmu, Uche, E., John-Olabode, S., Adediran, A., Wakama, T., Akanmu, S., Akinbami, A., Osunkalu, V.   +13 more
core   +1 more source

Mitochondrial Energy Metabolism In Neurodegeneration Associated With Methylmalonic Acidemia.

, 2015
Methylmalonic acidemia is one of the most prevalent inherited metabolic disorders involving neurological deficits. In vitro experiments, animal model studies and tissue analyses from human patients suggest extensive impairment of mitochondrial energy ...
Melo, Daniela R, Kowaltowski, Alicia J, Castilho, Roger F, Wajner, Moacir   +3 more
core   +1 more source

ANEJOS DEL BOLETÍN DE LA REAL ACADEMIA ESPAÑOLA [PDF]

ANEJOS DEL BOLETÍN DE LA REAL ACADEMIA ...
Academia Española, Real
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Evaluation of methylmalonic aciduria-related markers in 222 amniotic fluid samples.

, 2022
Evaluation of methylmalonic aciduria-related markers in 222 amniotic fluid samples.
Tongfei Wu (1693510), Mengqiu Li (1369623), Chunyan Shi (1416169), Hui Dong (153701), Yupeng Liu (396584), Ruxuan He (12292317), Lulu Kang (684986), Yao Zhang (134381), Jiong Qin (541838), Dongxiao Li (4860226), Jinqing Song (12292320), Yi Liu (36759), Yuan Ding (617135), Junya Chen (12328906), Ying Jin (107917), Yanling Yang (427399), Qiao Wang (174321), Yanyan Ma (2910716), Xiyuan Li (1307673), Zhehui Chen (12292314)   +19 more
core   +1 more source

TYPE; MMAA; METHYLMALONICACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN

, 1993
tonic seizures in methylmalonic academia, ” Brain Dev 1997; 19: 502-505. 4. Andreula CF, DeBlasi R, Carella A.

core  

Normas ortográficas do idioma galego

, 1970
Obra aprobada pola Real Academia Galega na súa xuntanza do 15 de febreiro de ...
Real Academia Galega
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Mouse models for methylmalonic aciduria [PDF]

, 2012
Methylmalonic aciduria (MMA) is a disorder of organic acid metabolism resulting from a functional defect of methylmalonyl-CoA mutase (MCM). MMA is associated with significant morbidity and mortality, thus therapies are necessary to help improve quality ...
Sarsero, JP, Pitt, JJ, Buck, NE, Peters, HL, Wood, LR, Hamilton, NJ   +5 more
core   +1 more source