Results 161 to 170 of about 171,422 (307)

Genetic sequencing of children with malrotation and midgut volvulus: A cross‐sectional study

open access: yesJPGN Reports, EarlyView.
Abstract Objectives Intestinal malrotation with midgut volvulus can cause a particularly severe form of pediatric intestinal failure and is often a cause of ultra‐short bowel syndrome (SBS), with longer dependence on parenteral nutrition. While malrotation can be found in several genetic syndromes, most occurrences of this condition are not associated ...
Jonathan A. Salazar   +9 more
wiley   +1 more source

A rare diagnosis during evaluation for metabolic dysfunction associated steatotic liver disease: Glycogen storage disease type Ia presenting during adolescence in a male with severe obesity

open access: yesJPGN Reports, EarlyView.
Abstract Metabolic dysfunction‐associated steatotic liver disease (MASLD) is a common comorbidity of pediatric obesity that predisposes patients to hepatocellular adenomas (HCAs). HCAs however are nonspecific to MASLD and warrant further evaluation. We present a case of a 16‐year‐old male with severe obesity, and persistently elevated liver enzymes ...
Carolena Trocchia   +3 more
wiley   +1 more source

Review of the Diagnostic Evaluation of Renal Tubular Acidosis

open access: yes, 2016
Background: The term renal tubular acidosis (RTA) describes a group of uncommon kidney disorders characterized by defective acid-base regulation. Reaching the diagnosis of RTA is complex and often delayed, resulting in suboptimal treatment. Methods: This
Yaxley, Julian, Pirrone, Christine
core  

Resolution of proximal tubular dysfunction after liver transplantation in ATP8B1 deficiency: A case report

open access: yesJPGN Reports, EarlyView.
Abstract Progressive familial intrahepatic cholestasis type 1 (PFIC1), caused by ATP8B1 deficiency, is a multisystem disorder with extrahepatic manifestations; however, renal involvement has rarely been described. We report a child with genetically confirmed PFIC1 who underwent living donor liver transplantation (LT) for progressive liver disease ...
Angela Marino   +3 more
wiley   +1 more source

Acidosis-Sensing Glutamine Pump SNAT2 Determines Amino Acid Levels and Mammalian Target of Rapamycin Signalling to Protein Synthesis in L6 Muscle Cells

open access: yes, 2007
Wasting of lean tissue as a consequence of metabolic acidosis is a serious problem in patients with chronic renal failure. A possible contributor is inhibition by low pH of the System A (SNAT2) transporter, which carries the amino acid L-Glutamine into ...
Z. Nasim (7582337)   +8 more
core  

ReIationship of Plasma Potassium and Hydrogen Ion Concentrations in Acidosis-Induced HyperkaIemia and HyperkaIemia-Induced Acidosis

open access: yes, 1993
The relationship between the plasma potassium concentration and blood pH was evaluated in acidosis-induced hyperkalemia and hyperkalemiainduced acidosis in rabbits.
Kim, Woo Gyeum   +2 more
core  

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