Results 111 to 120 of about 12,209 (257)

Hypoaminoacidemia and Pyroglutamic Aciduria: Potential Biomarkers in Malnutrition‐Related Hyperammonemia

open access: yesJIMD Reports, Volume 67, Issue 1, January 2026.
ABSTRACT Hyperammonemia is a medical emergency, and the cause must be identified quickly in order to treat appropriately. Malnutrition is a known risk factor for hyperammonemia; however, there are limited reliable lab indicators used to identify malnutrition.
M. M. Crenshaw   +12 more
wiley   +1 more source

Neonatal diabetes, gallbladder agenesis, duodenal atresia, and intestinal malrotation caused by a novel homozygous mutation inRFX6

open access: green, 2013
Jennifer Concepción   +8 more
openalex   +1 more source

Correction to: Postoperative intestinal obstruction in patients with biliary atresia impedes biliary excretion and results in subsequent liver transplantation [PDF]

open access: hybrid, 2021
Aitaro Takimoto   +10 more
openalex   +1 more source

Retrospective case‐control study of nutritional and respiratory status in children with type III esophageal atresia

open access: yesJournal of Pediatric Gastroenterology and Nutrition, Volume 82, Issue 1, Page 184-193, January 2026.
Abstract Objectives To evaluate the impact of undernutrition in school‐aged children born with type III esophageal atresia (EA), and to determine its potential risk factors, including their respiratory history and status assessed by pulmonary function tests at school‐age. Methods Retrospective multicentre cohort study encompassing patients born between
Marie‐Alix Chansou   +28 more
wiley   +1 more source

Atresia y estenosis intestinal congénita [PDF]

open access: diamond, 1955
ALFREDO DEL RIO   +2 more
openalex   +1 more source

Drugs in focus: Budesonide and its role in paediatric gastrointestinal disorders

open access: yesJournal of Pediatric Gastroenterology and Nutrition, Volume 82, Issue 1, Page 60-69, January 2026.
Abstract Budesonide is a glucocorticoid with strong topical anti‐inflammatory properties and minimal systemic effects due to extensive first‐pass hepatic metabolism. It is designed for targeted delivery within the gastrointestinal (GI) tract and is available in oral and rectal formulations.
Sohail Aziz   +11 more
wiley   +1 more source

Prominent Follicular Keratosis in Multiple Intestinal Atresia with Combined Immune Deficiency Caused by a TTC7A Homozygous Mutation. [PDF]

open access: yesGenes (Basel), 2022
Diociaiuti A   +7 more
europepmc   +1 more source

Management of Pediatric and Adolescent Rhabdomyosarcoma of the Chest Wall: An Expert Consensus Opinion From the International Soft Tissue Sarcoma Consortium (INSTRuCT)

open access: yesPediatric Blood &Cancer, Volume 73, Issue 1, January 2026.
ABSTRACT The International Soft‐Tissue Sarcoma Consortium (INSTRuCT) was established as a global partnership among various pediatric soft tissue sarcoma groups, including the Children's Oncology Group (COG), European Pediatric Soft Tissue Sarcoma Group (EpSSG), and Cooperative Weichteilsarkom Studiengruppe (CWS). One of INSTRuCT's primary objectives is
Andreas Schmidt   +8 more
wiley   +1 more source

A Novel Homozygous TTC7A Missense Mutation Results in Familial Multiple Intestinal Atresia and Combined Immunodeficiency. [PDF]

open access: yesFront Immunol, 2021
Mou W   +11 more
europepmc   +1 more source

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