Identification of potential interferents of methylmalonic acid: A previously unrecognized pitfall in clinical diagnostics and newborn screening-Reference-Cited by-同舟云学术

Identification of potential interferents of methylmalonic acid: A previously unrecognized pitfall in clinical diagnostics and newborn screening

Published:2023-01 Issue: Volume:111 Page:72-80
ISSN:0009-9120
Container-title:Clinical Biochemistry
language:en
Short-container-title:Clinical Biochemistry

Author:

Monostori Péter,Godejohann Markus,Janda Joachim^ORCID,Galla Zsolt,Rácz Gábor,Klinke Glynis,Szatmári Ildikó,Zsidegh Petra,Kohlmüller Dirk,Kölker Stefan,Hoffmann Georg F.,Gramer Gwendolyn,Okun Jürgen G.

Publisher

Elsevier BV

Subject

Clinical Biochemistry,General Medicine

Reference25 articles.

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2. Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision;Forny;J Inherit Metab Dis,2021

3. Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia;Baumgartner;Orphanet J Rare Dis,2014

4. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation;Kölker;J Inherit Metab Dis,2015

5. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype;Kölker;J Inherit Metab Dis,2015

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1. Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023);International Journal of Neonatal Screening;2024-05-23

2. NMR Spectroscopy in Diagnosis and Monitoring of Methylmalonic and Propionic Acidemias;Biomolecules;2024-04-28

3. Validation of a targeted metabolomics panel for improved second‐tier newborn screening;Journal of Inherited Metabolic Disease;2023-02-02

4. Vitamin B12 (Cobalamin): Its Fate from Ingestion to Metabolism with Particular Emphasis on Diagnostic Approaches of Acquired Neonatal/Infantile Deficiency Detected by Newborn Screening;Metabolites;2022-11-12