Results 51 to 60 of about 5,396 (203)
Balkan Journal of Medical GeneticsPathogenic variants in TARS2 are associated with combined oxidative phosphorylation deficiency 21 (COXPD21), an autosomal recessive disorder usually presenting as mitochondrial encephalomyopathy.
Paripović A +7 more
doaj +1 more source
On the imbalanced protective arm of RAS in COVID‐19: Lesson from rare genetic tubulopathies [PDF]
, 2021 Paul A. Davis +2 more
openalex +1 more source
Veterinary Clinical Pathology, EarlyView.Abstract Urinary extracellular vesicles (UEVs) are membranous particles that carry renal tubular transporter proteins. Here, we evaluate whether selected renal tubular transporter proteins can be detected in UEVs isolated from small volume (1–5 mL) canine urine samples of healthy dogs and canine patients with elevated circulating parathyroid hormone ...
L. J. McGravey +2 more
wiley +1 more source
Diagnosis and clinical biochemistry of inherited tubulopathies [PDF]
Annals of Clinical Biochemistry, 2001 Epithelial ion channels and transporter proteins have physiologically important roles throughout the length of the nephron. Discovering the molecular identities of tubular epithelial cell proteins and their functional roles has increased understanding of both renal physiology and tubular diseases.
J A, Sayer, S H, Pearce
openaire +3 more sources
Comprehensive Metabolomic Profiling in Adults with X-Linked Hypophosphatemia: A Case-Control Study
BiomedicinesBackground: X-linked hypophosphatemia (XLH) is a rare disorder characterized by elevated levels of fibroblast growth factor 23 (FGF-23), leading to hypophosphatemia and complications in diagnosis due to its clinical heterogeneity.
Luis Carlos López-Romero +4 more
doaj +1 more source
Педиатрическая фармакология, 2013 The article describes modern views on etiology and pathogenesis of various variants of hypophosphatemic rickets and main approaches to diagnostics and treatment of this disease; it also presents a range of clinical cases from the authors’ practice.
N. N. Kartamysheva +9 more
doaj +1 more source
Successful Liver Transplantation in Two Polish Brothers with Transaldolase Deficiency
Children, 2021 Transaldolase deficiency (TALDO; OMIM 606003) is a rare inborn autosomal-recessive error of the pentose phosphate pathway. It is an early-onset multisystem disease with dysmorphic features, anaemia, coagulopathy, thrombocytopenia, tubulopathy ...
Marek Stefanowicz +7 more
doaj +1 more source
JIMD Reports, Volume 67, Issue 1, January 2026.ABSTRACT Hereditary tyrosinemia type I (HT‐1) is a rare metabolic disorder treated by NTBC, requiring careful therapeutic and nutritional monitoring. While follow‐up traditionally relies on urinary succinylacetone, plasma NTBC and plasma amino acids, dried blood spot (DBS) methods have introduced alternative monitoring options.
Anne‐Sophie Adam +7 more
wiley +1 more source
KCNJ16 associated Hypokalaemic Tubulopathy and Deafness presenting with Sudden Cardiac Arrest. [PDF]
, 2023 D. Sullivan +4 more
openalex +1 more source
Clinical Genetics, Volume 109, Issue 1, Page 136-140, January 2026.In a multicenter study of 692 patients with kidney disease, a 44‐gene panel achieved a 36% diagnostic yield. The 36% yield was not significantly lower than with larger panels or whole‐exome sequencing. A post hoc machine‐learning model identified key predictors to stratify patients into four risk bins (11%–74% yield), enabling more cost‐effective ...
Silvia Giovanella +22 more
wiley +1 more source