Long‐term follow‐up with filter paper samples in patients with propionic acidemia-Reference-Cited by-同舟云学术

Long‐term follow‐up with filter paper samples in patients with propionic acidemia

Published:2020-09-27 Issue:1 Volume:57 Page:44-51
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Stanescu Sinziana¹^ORCID,Belanger‐Quintana Amaya¹,Fernández‐Felix Borja Manuel²,Pérez‐Cerdá Celia³,Merinero Begoña³,Ruiz‐Sala Pedro³,Arrieta Francisco¹,Martínez‐Pardo Mercedes¹

Affiliation:

1. Unidad de Enfermedades Metabólicas Hospital Universitario Ramón y Cajal, IRYCIS, CIBER‐OBN Madrid Spain

2. Unidad de Bioestadística Clínica Instituto Ramón y Cajal de Investigación Sanitaria, Hospital Universitario Ramón y Cajal Madrid Spain

3. Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular Universidad Autónoma de Madrid, CIBERER, IdiPAZ Madrid Spain

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12166

Reference15 articles.

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2. Pathophysiology of propionic and methylmalonic acidemias. Part 2: Treatment strategies

3. Pathophysiology of propionic and methylmalonic acidemias. Part 1: Complications

4. Separation and identification of plasma short‐chain acylcarnitine isomers by HPLC/MS/MS for the differential diagnosis of fatty acid oxidation defects and organic acidemias;Ferrer I;Chromatogr B Analyt Technol Biomed Life Sci,2007

5. Development of a method for rapid quantitation of amino acids by liquid chromatography‐tandem mass spectrometry (LC‐MSMS) in plasma;Casetta B;Clin Chem Lab Med,2000

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1. Dysregulated Cell Homeostasis and miRNAs in Human iPSC-Derived Cardiomyocytes from a Propionic Acidemia Patient with Cardiomyopathy;International Journal of Molecular Sciences;2023-01-22

2. Newborn screening for propionic, methylmalonic acidemia and vitamin B12 deficiency. Analysis of 588,793 newborns;Journal of Pediatric Endocrinology and Metabolism;2022-09-19

3. O-GlcNAcylation enhances CPS1 catalytic efficiency for ammonia and promotes ureagenesis;Nature Communications;2022-09-05