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

X-linked dominant protoporphyria: The first reported Japanese case.

The Journal of dermatology - 1 Apr 2016

Ninomiya Yukiko, Kokunai Yasuhito, Tanizaki Hideaki, Akasaka Eijiro, Nakano Hajime, Moriwaki Shinichi

Abstract excerpt

A 12-year-old boy with photosensitivity since 3 years of age presented with small concavities on both cheeks, the nasal root and the dorsal surface of both hands. According to the clinical features, erythropoietic protoporphyria (EPP) was suspected. Urine and blood samples were tested for porphyrin derivatives, which revealed a markedly elevated level of erythrocyte protoporphyrin (EP) and a diagnosis of EPP was...

Read the complete abstract on PubMed

Topics

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

Share to 5-Aminolevulinate Synthetase
Share to Diagnosis, Differential

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ferrochelatase

Share to Genetic Diseases, X-Linked

Share to Protoporphyria, Erythropoietic

Share to Protoporphyrins

Source

Identifiers

PMID: 26387792
DOI: 10.1111/1346-8138.13101

Genes

ALAS2
FECH

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

X-linked dominant protoporphyria: The first reported Japanese case.PMID 26387792Read ↗

X-linked dominant protoporphyria: a new porphyria.Semantic proximity Read ↗

Clinical, Biochemical, and Genetic Characterization of North American Patients With Erythropoietic Protoporphyria and X-linked Protoporphyria.Semantic proximity Read ↗

Erythropoietic protoporphyria: spectrum of three cases.Semantic proximity Read ↗

Erythropoietic protoporphyriaSemantic proximity Read ↗

Erythropoietic protoporphyria: a family study and report of a novel mutation in the FECH gene.Semantic proximity Read ↗

Identification of a ferrochelatase mutation in a Chinese family with erythropoietic protoporphyria.Semantic proximity Read ↗

A case of erythrogenic protoporphyria with thyrotoxicosis and liver dysfunction in an adult female.Semantic proximity Read ↗

Inherited genetic late-onset erythropoietic protoporphyria: A systematic review of the literature.Semantic proximity Read ↗

Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria.Semantic proximity Read ↗

Identification of FECH gene multiple variations in two Chinese patients with erythropoietic protoporphyria and a review.Semantic proximity Read ↗

Allele variation in the ferrochelatase gene in a Chinese pedigree of erythropoietic protoporphyriaSemantic proximity Read ↗

[Inheritance in erythropoietic protoporphyria].Semantic proximity Read ↗

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