Results 181 to 190 of about 537,407 (394)

The pathologists’ eyes on foregut: histopathological relations in the experimental and routine diagnostics [PDF]

open access: yes, 2011
SUMMARY I. The study aimed to investigate the incidence of duodeno-gastroesophageal reflux-induced malignoma formation in a series of duodeno-esophageal anastomosis operations in rats.
Németh István Balázs
core  

Prenatal Brain Abnormalities in Sodium‐Dependent Multivitamin Transporter Deficiency

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT In treatable neurometabolic disorders, early diagnosis and prompt initiation of treatment are key to improved survival and outcomes. Biallelic variants in SLC5A6 cause sodium‐dependent multivitamin transporter deficiency (OMIM # 618973), which is treatable with high‐dose pantothenic acid, biotin, and alpha lipoic acid.
Eri Ogawa   +2 more
wiley   +1 more source

Quality of Life of Families Who Have Children With Cornelia de Lange Syndrome in Brazil: Opportunities for Improvement

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This exploratory cross‐sectional study aimed to estimate the family quality of life (FQoL) among 70 Brazilian families with children with Cornelia de Lange syndrome (CdLS). Data were collected using sociodemographic and clinical data forms, the Barthel index for activities of daily living, and the Beach Center FQoL Scale, a 5‐point Likert tool
Aline Apis   +8 more
wiley   +1 more source

Ambulatory reflux monitoring for diagnosis of gastro‐esophageal reflux disease: Update of the Porto consensus and recommendations from an international consensus group

open access: yesNeurogastroenterology and Motility, 2017
S. Roman   +49 more
semanticscholar   +1 more source

Addressing the Diagnostic Odyssey for Adults With Neurodevelopmental Disabilities: Case Study of an Individual With Mandibulofacial Dysostosis With Microcephaly

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Whole exome sequencing (WES) has been widely used in the pediatric setting to increase diagnostic yield, provide treatment options, and to estimate reoccurrence risks. However, there is limited knowledge regarding the utility of this technology in adults with neurodevelopmental disabilities.
Ruhi Shah   +6 more
wiley   +1 more source

The Lower Esophageal Intrinsic Sphincter and the Mechanism of Reflux

open access: green, 1967
Howard N. Anderson   +6 more
openalex   +2 more sources

Reflux Reflections [PDF]

open access: bronze, 1967
O. P. Dinnick
openalex   +1 more source

Epidemiology of gastro-oesophageal reflux disease: a systematic review

open access: yesGut, 2005
J. Dent   +3 more
semanticscholar   +1 more source

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