Acute Strokelike Presentation and Long-term Evolution of Diffusion Restriction Pattern in Ethylmalonic Encephalopathy.

Adolescent Brain / diagnostic imaging Brain Diseases, Metabolic, Inborn / diagnostic imaging Child Child, Preschool Diagnosis, Differential Female Humans Infant Magnetic Resonance Imaging / methods Male Purpura / diagnostic imaging Stroke / diagnostic imaging Time
ETHE1 ethylmalonic encephalopathy metabolic strokes mitochondrial disorder strokelike episodes

Journal

Journal of child neurology
ISSN: 1708-8283
Titre abrégé: J Child Neurol
Pays: United States
ID NLM: 8606714

Informations de publication

Date de publication:
09 2021
Historique:
pubmed: 27 4 2021
medline: 26 2 2022
entrez: 26 4 2021
Statut: ppublish

Résumé

Ethylmalonic encephalopathy is a rare autosomal recessive mitochondrial disorder caused by pathogenic biallelic variants in the

Identifiants

DOI: 10.1177/08830738211006507 PMID: 33900143
pubmed: 33900143
doi: 10.1177/08830738211006507
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

841-852

Auteurs

Jaehyung Lim (J)

Division of Pediatric Neurology and Developmental Neurosciences, 3989Baylor College of Medicine, Houston, TX, USA.

Brian J Shayota (BJ)

Department of Molecular and Human Genetics, 3989Baylor College of Medicine, Houston, TX, USA.
3984Texas Children's Hospital, Houston, TX, USA.

Erica Lay (E)

Department of Molecular and Human Genetics, 3989Baylor College of Medicine, Houston, TX, USA.
3984Texas Children's Hospital, Houston, TX, USA.

Sarah H Elsea (SH)

Department of Molecular and Human Genetics, 3989Baylor College of Medicine, Houston, TX, USA.

Mir Reza Bekheirnia (MR)

Department of Molecular and Human Genetics, 3989Baylor College of Medicine, Houston, TX, USA.
3984Texas Children's Hospital, Houston, TX, USA.
Renal Section, Department of Pediatrics, 3989Baylor College of Medicine, Houston, TX, USA.

Mary Elizabeth M Tessier (MEM)

Department of Pediatrics, Section of Pediatric Gastroenterology, Hepatology and Nutrition 3989Baylor College of Medicine Houston TX, USA.

Stephen F Kralik (SF)

Department of Radiology, 3984Texas Children's Hospital, Houston, TX, USA.

Gregory M Rice (GM)

Department of Pediatrics and the Waisman Center, 5232University of Wisconsin School of Medicine and Public Health, Madison, WI, USA.

Claudia Soler-Alfonso (C)

Department of Molecular and Human Genetics, 3989Baylor College of Medicine, Houston, TX, USA.
3984Texas Children's Hospital, Houston, TX, USA.
ORCID: 0000-0002-0257-3684

Fernando Scaglia (F)

Department of Molecular and Human Genetics, 3989Baylor College of Medicine, Houston, TX, USA.
3984Texas Children's Hospital, Houston, TX, USA.
Joint 3989BCM-CUHK Center of Medical Genetics, Prince of Wales Hospital, Shatin, Hong Kong SAR.

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adolescent › Acute Strokelike Presentation and Long-term...
questionsmedicales.fr › Système nerveux › Système nerveux central › Encéphale › Acute Strokelike Presentation and Long-term...
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Erreurs innées du métabolisme › Encéphalopathies métaboliques congénitales › Acute Strokelike Presentation and Long-term...
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Acute Strokelike Presentation and Long-term...
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Enfant d'âge préscolaire › Acute Strokelike Presentation and Long-term...
questionsmedicales.fr › Diagnostic › Diagnostic différentiel › Acute Strokelike Presentation and Long-term...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Acute Strokelike Presentation and Long-term...
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › Acute Strokelike Presentation and Long-term...
questionsmedicales.fr › Diagnostic › Techniques et procédures diagnostiques › Imagerie diagnostique › Tomographie › Imagerie par résonance magnétique › Acute Strokelike Presentation and Long-term...
questionsmedicales.fr › États, signes et symptômes pathologiques › Signes et symptômes › Manifestations cutanées › Purpura › Acute Strokelike Presentation and Long-term...
questionsmedicales.fr › Maladies cardiovasculaires › Maladies vasculaires › Angiopathies intracrâniennes › Accident vasculaire cérébral › Acute Strokelike Presentation and Long-term...
questionsmedicales.fr › Phénomènes physiques › Temps › Acute Strokelike Presentation and Long-term...