Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut.

Journal of inherited metabolic disease - 1 Jan 2021

Hörster Friederike, Tuncel Ali Tunç, Gleich Florian, Plessl Tanja, Froese Sean D, Garbade Sven F, Kölker Stefan, Baumgartner Matthias R

Abstract excerpt

INTRODUCTION: Long-term outcome is postulated to be different in isolated methylmalonic aciduria caused by mutations in the MMAA gene (cblA type) compared with methylmalonyl-CoA mutase deficiency (mut), but case definition was previously difficult. METHOD: Cross-sectional analysis of data from the European Registry and Network for Intoxication type Metabolic Diseases (Chafea no. December 1, 2010). RESULTS: Data...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acid Metabolism, Inborn Errors
Share to Glomerular Filtration Rate

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Kidney Failure, Chronic

Share to Metabolism, Inborn Errors

Share to Methylmalonic Acid

Share to Methylmalonyl-CoA Mutase

Share to Mitochondrial Membrane Transport Proteins

Share to Vitamin B 12

Source

Identifiers

PMID: 32754920
DOI: 10.1002/jimd.12297

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut.PMID 32754920Read ↗

Diagnostic work‐up and management of patients with isolated methylmalonic acidurias in European metabolic centresSemantic proximity Read ↗

Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemiaSemantic proximity Read ↗

Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB).Semantic proximity Read ↗

Clinical and Molecular Spectrum of Patients with Methylmalonic Acidemia.Semantic proximity Read ↗

Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group.Semantic proximity Read ↗

Long-term outcome in methylmalonic aciduria: a series of 30 French patients.Semantic proximity Read ↗

Clinical outcomes of patients with mut-type methylmalonic acidemia identified through expanded newborn screening in China.Semantic proximity Read ↗

Methylmalonic acidemia: Current status and research prioritiesSemantic proximity Read ↗

[MOLECULAR-GENETIC ASPECTS OF METHYLMALONIC ACIDURIA DEVELOPMENT (REVIEW)].Semantic proximity Read ↗

Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study.Semantic proximity Read ↗

Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC).Semantic proximity Read ↗

Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.