Pathogenic Deep Intronic PCSK1 Variant Causes Proprotein Convertase 1/3 Deficiency in a Family
Biallelic PCSK1 loss‐of‐function mutations cause proprotein convertase 1/3 (PC1/3) deficiency, a polyendocrinopathy; a total of 36 patients were reported. The first deep intronic PCSK1 variant, (NM_000439.5):c.1196+2681T>A, was found to segregate with the disease in a consanguineous family, and is shown together with 32 reported mutations.
Leah M. Huber+6 more
wiley +1 more source
The Impact of a Prolonged Multivitamin Shortage on Home Parenteral Nutrition Patients: A Single-Center Retrospective Cohort Study with Case Reports of Wernicke's Encephalopathy. [PDF]
Unhapipatpong C+9 more
europepmc +1 more source
Abstract Insulin has been discovered for more than a century; however, its benefits to people with diabetes are yet to be fully realized due to barriers related to access, quality of care and costs. Insulin therapy remains the cornerstone of diabetes management. The multicausality of diabetes and its subtypes calls for comprehensive phenotyping and use
Aimin Yang+4 more
wiley +1 more source
The Modern Approach to Total Parenteral Nutrition: Multidirectional Therapy Perspectives with a Focus on the Physicochemical Stability of the Lipid Fraction. [PDF]
Sobol Ż+2 more
europepmc +1 more source
ABSTRACT Piscine francisellosis is a highly infectious and economically significant disease caused by Francisella orientalis in tilapia (Oreochromis spp.). There are currently no approved treatments or commercial vaccines for this disease in cultured fish.
Collin Meyer+6 more
wiley +1 more source
The Impact of Long-Term Parenteral Nutrition on Physical Development and Bone Mineralization in Children with Chronic Intestinal Failure. [PDF]
Romanowska H+9 more
europepmc +1 more source
Total Parenteral Nutrition in Pancreatic Disease
John P. Grant+3 more
openalex +2 more sources
ABSTRACT Background Risk factors for the development of fluid overload (FO) and its potential negative effects have not been investigated in dogs. Hypothesis/Objectives Evaluate risk factors and outcomes in hospitalized dogs that received fluids IV and developed clinical signs of FO compared to those that did not.
Alexandra Pfaff+5 more
wiley +1 more source
Essential fatty acid deficiency in parenteral nutrition: Historical perspective and modern solutions, a narrative review. [PDF]
Wolff J, Cober MP, Huff KA.
europepmc +1 more source
Ultrasonographic study of gallbladder motility during total parenteral nutrition
N. Cano+4 more
openalex +1 more source