Acute Intermittent Porphyria: Complete Phenotype in a Patient with p.Arg173Trp Variant in Thailand

Patient: Female, 14-year-old Final Diagnosis: Acute intermittent porphyria Symptoms: Abdominal pain • hypertensive crisis • hyponatremia • vomiting Medication: — Clinical Procedure: — Specialty: Genetics OBJECTIVE: Rare disease BACKGROUND: Acute intermittent porphyria (AIP) is a rare genetic disease...

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Detalles Bibliográficos
Autores principales: Sriprakoon, Vachiravit, Ittagornpunth, Chalisa, Puapaiboon, Nakorn, Bunyahathaipat, Aekasit, Piriyanon, Punnapat, Khositseth, Sookkasem, Rojnueangnit, Kitiwan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: International Scientific Literature, Inc. 2022
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9641550/
https://www.ncbi.nlm.nih.gov/pubmed/36329616
http://dx.doi.org/10.12659/AJCR.937695

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9641550/
https://www.ncbi.nlm.nih.gov/pubmed/36329616
http://dx.doi.org/10.12659/AJCR.937695

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