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Last Updated: 10/31/2025
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Found 1016 publications
A case of cblF type methylmalonic aciduria and homocystinuria
Journal: Zhonghua er ke za zhi = Chinese journal of pediatrics
Published: October 14, 2025
Evaluation of scientific validity and appropriateness of artificial intelligence-assisted ChatGPT advices in dietary treatment of methylmalonic acidemia.
Journal: Nutricion hospitalaria
Published: September 29, 2025
Sequential therapy with carglumic acid in three cases of organic acidemia crisis
Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
Published: July 22, 2025
A case report of combined methylmalonic acidemia and homocysteinemia presented with cerebral sinus thrombosis and fluctuating cognitive impairment.
Journal: Medicine
Published: June 17, 2025
Ophthalmologic findings in a patient with methylmalonic acidemia and the N219Y mutase mutation.
Journal: Archivos de la Sociedad Espanola de Oftalmologia
Published: May 30, 2025
Expanded newborn screening for inborn errors of metabolism and genetic variants in Xinjiang, China.
Journal: Frontiers in genetics
Published: April 24, 2025
Dual molecular genetic diagnosis with combined malonic and methylmalonic aciduria (CMAMMA): implications of coexisting genetic disorders on clinical presentation.
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: April 13, 2025
Last Updated: 10/31/2025