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

The clinical variations and diagnostic challenges of deoxyguanosine kinase deficiency: a descriptive case series.

Journal of pediatric endocrinology & metabolism : JPEM - 26 Oct 2021

Doğulu Neslihan, Tuna Kırsaçlıoğlu Ceyda, Köse Engin, Ünlüsoy Aksu Aysel, Kuloğlu Zarife, Kansu Aydan, Eminoğlu Fatma Tuba

Abstract excerpt

OBJECTIVES: Deoxyguanosine kinase (DGUOK) deficiency is one of the leading causes of the mitochondrial DNA-depletion syndromes (MDDS) associated with hepatocerebral involvement. Herein, we present four cases of DGUOK deficiency to emphasize the clinical variability of disease and the challenges in the diagnosis of DGUOK deficiency. CASE PRESENTATION: Hepatomegaly, hyperlactatemia, elevated alpha fetoprotein...

Read the complete abstract on PubMed

Topics

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

Share to Acidosis, Lactic
Share to Diagnosis, Differential

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hemochromatosis

Share to Infant, Newborn

Share to Liver Diseases

Share to Mitochondrial Diseases

Share to Phosphotransferases (Alcohol Group Acceptor)

Share to Turkey

Source

Identifiers

PMID: 34167177
DOI: 10.1515/jpem-2021-0108

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

The clinical variations and diagnostic challenges of deoxyguanosine kinase deficiency: a descriptive case series.PMID 34167177Read ↗

Deoxyguanosine kinase deficiency: a report of four patients.Semantic proximity Read ↗

Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.Semantic proximity Read ↗

Natural history of deoxyguanosine kinase deficiency.Semantic proximity Read ↗

Neonatal liver failure due to deoxyguanosine kinase deficiency.Semantic proximity Read ↗

Case report: Two unexpected cases of DGUOK-related mitochondrial DNA depletion syndrome presenting with hyperinsulinemic hypoglycemia.Semantic proximity Read ↗

Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure.Semantic proximity Read ↗

Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients with hepatic involvement.Semantic proximity Read ↗

Novel deoxyguanosine kinase gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome.Semantic proximity Read ↗

Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis.Semantic proximity Read ↗

[DGUOK-related mitochondrial DNA depletion syndrome: a case report and literature review].Semantic proximity Read ↗

Mitochondrial DNA depletion and dGK gene mutations.Semantic proximity Read ↗

Clinical and molecular characterization of three patients with Hepatocerebral form of mitochondrial DNA depletion syndrome: a case series.Semantic proximity Read ↗

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