Proprotein convertase 1/3 deficiency

Common Name(s)

Proprotein convertase 1/3 deficiency

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Proprotein convertase 1/3 deficiency" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Proprotein convertase 1/3 deficiency" returned 2 free, full-text research articles on human participants. First 3 results:

Long-Term Follow-up of a Case with Proprotein Convertase 1/3 Deficiency: Transient Diabetes Mellitus with Intervening Diabetic Ketoacidosis During Growth Hormone Therapy.
 

Author(s): E. Nazlı Gönç, Alev Özön, Ayfer Alikaşifoğlu, Nurgün Kandemir

Journal: J Clin Res Pediatr Endocrinol. 2017 09;9(3):283-287.

 

Proprotein convertase 1/3 (PC1/3) deficiency is a very rare disease characterized by severe intractable diarrhea in the first years of life, followed by obesity and several hormonal deficiencies later. Diabetes mellitus requiring insulin treatment and diabetic ketoacidosis have not ...

Last Updated: 31 Dec 1969

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Congenital proprotein convertase 1/3 deficiency causes malabsorptive diarrhea and other endocrinopathies in a pediatric cohort.
 

Author(s): Martín G Martín, Iris Lindberg, R Sergio Solorzano-Vargas, Jiafang Wang, Yaron Avitzur, Robert Bandsma, Christiane Sokollik, Sarah Lawrence, Lindsay A Pickett, Zijun Chen, Odul Egritas, Buket Dalgic, Valeria Albornoz, Lissy de Ridder, Jessie Hulst, Faysal Gok, Ayşen Aydoğan, Abdulrahman Al-Hussaini, Deniz Engin Gok, Michael Yourshaw, S Vincent Wu, Galen Cortina, Sara Stanford, Senta Georgia

Journal: Gastroenterology. 2013 Jul;145(1):138-148.

 

Proprotein convertase 1/3 (PC1/3) deficiency, an autosomal-recessive disorder caused by rare mutations in the proprotein convertase subtilisin/kexin type 1 (PCSK1) gene, has been associated with obesity, severe malabsorptive diarrhea, and certain endocrine abnormalities. Common variants ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Proprotein convertase 1/3 deficiency" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.