Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1990 1
2004 1
2005 1
2014 1
2021 1
2022 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

6 results

Results by year

Filters applied: . Clear all
Page 1
Review of neuropsychological outcomes in isolated methylmalonic acidemia: recommendations for assessing impact of treatments.
Waisbren SE. Waisbren SE. Metab Brain Dis. 2022 Jun;37(5):1317-1335. doi: 10.1007/s11011-022-00954-1. Epub 2022 Mar 29. Metab Brain Dis. 2022. PMID: 35348993 Review.
Methylmalonic acidemia (MMA) due to methylmalonyl-CoA mutase deficiency (OMIM #251,000) is an autosomal recessive disorder of organic acid metabolism associated with life-threatening acute metabolic decompensations and significant neuropsycholog …
Methylmalonic acidemia (MMA) due to methylmalonyl-CoA mutase deficiency (OMIM #251,000) is an autosomal recessive disorder of …
Screening for neonatal inherited metabolic disorders by tandem mass spectrometry in Guangzhou.
Tang C, Tan M, Xie T, Tang F, Liu S, Wei Q, Liu J, Huang Y. Tang C, et al. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2021 Aug 25;50(4):463-471. doi: 10.3724/zdxbyxb-2021-0260. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2021. PMID: 34704419 Free PMC article. English.
A total of 79 cases of IMD were diagnosed, including 23 with aminoacidopathy, 17 with disorder of organic acid metabolism and 39 with fatty acid oxidation disorders, involving 21 diseases. ...A total of 79 cases of IMD were diagnosed, including …
A total of 79 cases of IMD were diagnosed, including 23 with aminoacidopathy, 17 with disorder of organic acid …
Correction of methylmalonic aciduria in vivo using a codon-optimized lentiviral vector.
Wong ES, McIntyre C, Peters HL, Ranieri E, Anson DS, Fletcher JM. Wong ES, et al. Hum Gene Ther. 2014 Jun;25(6):529-38. doi: 10.1089/hum.2013.111. Epub 2014 Apr 2. Hum Gene Ther. 2014. PMID: 24568291 Free PMC article.
Methylmalonic aciduria is a rare disorder of organic acid metabolism with limited therapeutic options, resulting in high morbidity and mortality. ...
Methylmalonic aciduria is a rare disorder of organic acid metabolism with limited therapeutic options, re …
Glutaric aciduria type I: a neuroimaging diagnosis?
Santos CC, Roach ES. Santos CC, et al. J Child Neurol. 2005 Jul;20(7):588-90. doi: 10.1177/08830738050200070901. J Child Neurol. 2005. PMID: 16159525
Glutaric aciduria type I is an autosomal recessive disorder of organic acid metabolism secondary to glutaryl-coenzyme A (CoA) dehydrogenase deficiency. ...
Glutaric aciduria type I is an autosomal recessive disorder of organic acid metabolism secondary to gluta …
An unusual insertion/deletion in the gene encoding the beta-subunit of propionyl-CoA carboxylase is a frequent mutation in Caucasian propionic acidemia.
Tahara T, Kraus JP, Rosenberg LE. Tahara T, et al. Proc Natl Acad Sci U S A. 1990 Feb;87(4):1372-6. doi: 10.1073/pnas.87.4.1372. Proc Natl Acad Sci U S A. 1990. PMID: 2154743 Free PMC article.
Propionic acidemia is an inherited disorder of organic acid metabolism that is caused by deficiency of propionyl-CoA carboxylase (PCC; EC 6.4.1.3). ...
Propionic acidemia is an inherited disorder of organic acid metabolism that is caused by deficiency of pr …
Glutaric aciduria type I: value of diffusion-weighted magnetic resonance imaging for diagnosing acute striatal necrosis.
Elster AW. Elster AW. J Comput Assist Tomogr. 2004 Jan-Feb;28(1):98-100. doi: 10.1097/00004728-200401000-00016. J Comput Assist Tomogr. 2004. PMID: 14716240
Glutaric aciduria type I is a rare disorder of organic acid metabolism caused by deficiency of glutaryl-CoA dehydrogenase. ...
Glutaric aciduria type I is a rare disorder of organic acid metabolism caused by deficiency of glutaryl-C …