Liver transplantation for inborn errors of metabolism [PDF]
Koep, L, Putnam, CW, Starzl, TE
core
Cancer pain: current practice and emerging targets
Cancer pain (CP) arises from a complex interplay between the tumour and its microenvironment. Many patients experience a mixed pain phenotype that encompasses nociceptive, neuropathic and neuroinflammatory mechanisms, and vary across tumour type and disease stage. Despite decades of intensive research, the mainstay of cancer pain treatment is still non‐
Yi Ye +5 more
wiley +1 more source
Fully Automated Serum LC-MS/MS Platform and Pediatric Reference Intervals for Organic Acids, Amino Acids, and Acylcarnitines in Children (Ages 0-6 Years): Toward Quantitative Diagnosis of Inborn Errors of Metabolism. [PDF]
Ueyanagi Y +11 more
europepmc +1 more source
Clinical Challenges in Transition to Adult Care for Young People With Endocrinopathies
ABSTRACT The complexity of transition of pediatric patients to adult care is well recognized, with a multidisciplinary approach widely agreed to be essential. Despite extensive existing literature in this area, practical guidance as to the management of specific medical aspects and how to address these with patients and families is lacking, with little
Margaret Zacharin, Quynh‐Nhu Nguyen
wiley +1 more source
ABSTRACT Background Repeated low‐level red‐light (RLRL) therapy is a novel, non‐invasive intervention for controlling paediatric myopia progression. Despite increasing clinical use, questions remain regarding the magnitude, durability, and safety of treatment effects.
Lee‐Yuan Lin +8 more
wiley +1 more source
Diagnostic and management challenges of a case of N-acetylglutamate synthase deficiency in a resource-limited healthcare setting in Tanzania: a case report. [PDF]
Thaver S +8 more
europepmc +1 more source
Inborn Errors of Iodine Metabolism [PDF]
openaire +2 more sources
Expanding Phenotype of GINS1 Deficiency: A Case Report and Review of the Literature
The authors present a novel case and review of individuals with GINS1 deficiency, causing severe growth restriction and combined immunodeficiency. Only the ninth case of this ultrarare disorder, it highlights the role of these variants in disease, glaucoma as a feature, and the possibility of immunodeficiency without infections in affected individuals.
Michael P. Mackley +6 more
wiley +1 more source
Association of maternal biliary disease with hepatopancreatobiliary morbidity in offspring. [PDF]
Auger N +6 more
europepmc +1 more source

