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

AGC2 (Citrin) Deficiency-From Recognition of the Disease till Construction of Therapeutic Procedures.

Biomolecules - 24 Jul 2020

Saheki Takeyori, Moriyama Mitsuaki, Funahashi Aki, Kuroda Eishi

Abstract excerpt

Can you imagine a disease in which intake of an excess amount of sugars or carbohydrates causes hyperammonemia? It is hard to imagine the intake causing hyperammonemia. AGC2 or citrin deficiency shows their symptoms following sugar/carbohydrates intake excess and this disease is now known as a pan-ethnic disease. AGC2 (aspartate glutamate carrier 2) or citrin is a mitochondrial transporter which transports...

Read the complete abstract on PubMed

Topics

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

Share to Aspartic Acid
Share to Biological Transport
Share to Calcium-Binding Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Citrullinemia

Share to Genetic Predisposition to Disease

Share to Glutamic Acid

Share to Mitochondrial Membrane Transport Proteins

Share to Organic Anion Transporters

Source

Open in PubMed Open full text

Identifiers

PMID: 32722104
DOI: 10.3390/biom10081100
PMCID: PMC7465890

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

AGC2 (Citrin) Deficiency-From Recognition of the Disease till Construction of Therapeutic Procedures.PMID 32722104Read ↗

Citrin deficiency-The East-side story.Semantic proximity Read ↗

Pathogenic variants of the mitochondrial aspartate/glutamate carrier causing citrin deficiency.Semantic proximity Read ↗

Pathogenesis and pathophysiology of citrin (a mitochondrial aspartate glutamate carrier) deficiency.Semantic proximity Read ↗

Citrin deficiency – pathogenesis, clinical and biochemical manifestation, diagnostics, treatmentSemantic proximity Read ↗

Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle.Semantic proximity Read ↗

Pathogenesis and Management of Citrin Deficiency.Semantic proximity Read ↗

Clinical landscape of citrin deficiency: A global perspective on a multifaceted condition.Semantic proximity Read ↗

Pathogenesis of adult-onset type II citrullinemia caused by deficiency of citrin, a mitochondrial solute carrier protein: tissue and subcellular localization of citrin.Semantic proximity Read ↗

Clinical findings in five Turkish patients with citrin deficiency and identification of a novel mutation on SLC25A13.Semantic proximity Read ↗

Genotypic and phenotypic features of citrin deficiency: five-year experience in a Chinese pediatric center.Semantic proximity Read ↗

[Adult-onset citrullinemia].Semantic proximity Read ↗

[Adult-onset citrullinemia].Semantic proximity Read ↗

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