Distal phalangeal erythema in an infant with biallelic

PDSS1 coenzyme Q10 cutaneous erythema mitochondria phalangeal

Journal

JIMD reports
ISSN: 2192-8304
Titre abrégé: JIMD Rep
Pays: United States
ID NLM: 101568557

Informations de publication

Date de publication:
Nov 2021
Historique:
received: 10 02 2021
revised: 19 03 2021
accepted: 23 03 2021
entrez: 12 11 2021
pubmed: 13 11 2021
medline: 13 11 2021
Statut: epublish

Résumé

We report a detailed clinical examination in a patient with primary coenzyme Q

Identifiants

pubmed: 34765390
doi: 10.1002/jmd2.12216
pii: JMD212216
pmc: PMC8574184
doi:

Types de publication

Journal Article

Langues

eng

Pagination

3-5

Informations de copyright

© 2021 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM.

Déclaration de conflit d'intérêts

Marcello Bellusci, Maria Teresa García‐Silva, Ana Martínez de Aragón, and Miguel Angel Martín declare that they have no conflict of interest.

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pubmed: 25967120

Auteurs

Marcello Bellusci (M)

Reference Center for Inherited Metabolic Disorders, MetabERN Center "12 de Octubre" University Hospital Madrid Spain.
Mitochondrial & Neuromuscular Disorders Research Group, Instituto de Investigación Sanitaria "12 de Octubre" (imas12) Madrid Spain.
Spanish Biomedical Research Networking Center in Rare Diseases (CIBERER) Madrid Spain.

Maria Teresa García-Silva (MT)

Reference Center for Inherited Metabolic Disorders, MetabERN Center "12 de Octubre" University Hospital Madrid Spain.
Mitochondrial & Neuromuscular Disorders Research Group, Instituto de Investigación Sanitaria "12 de Octubre" (imas12) Madrid Spain.
Spanish Biomedical Research Networking Center in Rare Diseases (CIBERER) Madrid Spain.

Ana Martínez de Aragón (A)

Pediatric Neuroradiology "12 de Octubre" University Hospital Madrid Spain.

Miguel Angel Martín (MA)

Mitochondrial & Neuromuscular Disorders Research Group, Instituto de Investigación Sanitaria "12 de Octubre" (imas12) Madrid Spain.
Spanish Biomedical Research Networking Center in Rare Diseases (CIBERER) Madrid Spain.

Classifications MeSH