» Articles » PMID: 11673377

Rapid Diagnosis of Methylmalonic and Propionic Acidemias: Quantitative Tandem Mass Spectrometric Analysis of Propionylcarnitine in Filter-paper Blood Specimens Obtained from Newborns

Overview
Journal Clin Chem
Specialty Biochemistry
Date 2001 Oct 24
PMID 11673377
Citations 37
Authors
Affiliations
Soon will be listed here.
Citing Articles

Spectrum of Organic Aciduria Diseases in Tunisia: A 35-year Retrospective Study.

Jelassi A, Nasrallah F, Talbi E, Hammami M, Ghodbane R, Sanhaji H Saudi J Med Med Sci. 2024; 12(1):27-34.

PMID: 38362096 PMC: 10866378. DOI: 10.4103/sjmms.sjmms_437_23.


Intellectual disability and autism in propionic acidemia: a biomarker-behavioral investigation implicating dysregulated mitochondrial biology.

Shchelochkov O, Farmer C, Chlebowski C, Adedipe D, Ferry S, Manoli I Mol Psychiatry. 2024; 29(4):974-981.

PMID: 38200289 PMC: 11176071. DOI: 10.1038/s41380-023-02385-5.


Systemic gene therapy using an AAV44.9 vector rescues a neonatal lethal mouse model of propionic acidemia.

Chandler R, Di Pasquale G, Choi E, Chang D, Smith S, Sloan J Mol Ther Methods Clin Dev. 2023; 30:181-190.

PMID: 37746248 PMC: 10512014. DOI: 10.1016/j.omtm.2023.06.008.


Prevalence of propionic acidemia in China.

Zhang Y, Peng C, Wang L, Chen S, Wang J, Tian Z Orphanet J Rare Dis. 2023; 18(1):281.

PMID: 37689673 PMC: 10493020. DOI: 10.1186/s13023-023-02898-w.


Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene.

Pangilinan F, Watkins D, Bernard D, Chen Y, Dong N, Wu Q Am J Med Genet A. 2022; 188(4):1124-1141.

PMID: 35107211 PMC: 8923979. DOI: 10.1002/ajmg.a.62627.