Results 61 to 70 of about 11,057 (205)

Renal Phosphate Reabsorption in Humans Depends on at Least Three Distinct Transporters Unlike in Mice

Acta Physiologica, Volume 242, Issue 8, August 2026.
ABSTRACT Aim Kidney excretion of phosphate is the gatekeeper of systemic phosphate homeostasis as evident from inborn and acquired diseases. Renal phosphate transporters are a promising target for phosphate‐lowering drugs, but molecular details of human kidney phosphate handling are largely unknown.
Ashley L. Fernandes, Laurine Lang, Jürgen Klar, Anja Giese, Alexander Ehrmann, Rupert Busch, Hannah Auwerx, Christoph Daniel, Nati Hernando, Isabel Rubio‐Aliaga, Carsten A. Wagner   +10 more
wiley   +1 more source

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis [PDF]

, 1995
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis. Very few patients with familial hypomagnesemia, hypercalciuria and nephrocalcinosis have been described.
Vara, Julia, Alamo, Concepción, Praga, Manuel, Rodicio, José Luis, Araque, Alicia, González-Parra, Emilio, Ortiz, Arturo, Andrés, Amado   +7 more
core   +1 more source

First retrospective study on pediatric nephrocalcinosis in Syria: clinical symptoms and causes

Frontiers in Pediatrics
BackgroundNephrocalcinosis is the deposition of calcium oxalate and phosphate in the kidneys. It is often asymptomatic and diagnosed via ultrasound. Symptoms may include hematuria or sterile leukocyturia.
Hadeel Ghanem, Mostafa Hassan, Sarena Swideah, Hala Wannous   +3 more
doaj   +1 more source

First Strike: Description of the Events at the First Salmon Farm Affected by the 2025 Algal Bloom in Northern Norway

Journal of Fish Diseases, Volume 49, Issue 8, August 2026.
ABSTRACT Harmful algal blooms (HABs) are a threat to fish welfare, occurring suddenly and unexpectedly causing significant consequences for fish and salmon farmers worldwide. Norwegian farmers have been facing this challenge at irregular intervals since the very beginning of the industry. This report describes the events on the first fish farm affected
Julie Seem, Mirjam Nikoline Petterson, Tore Seternes, Pål Furset Lader, Julie Christine Svendsen, Lars‐Johan Naustvoll, Lars Helge Stien   +6 more
wiley   +1 more source

Clinical Insights Into Hypercalcemia of Malignancy in Childhood

Pediatric Blood &Cancer, Volume 73, Issue 7, July 2026.
ABSTRACT Hypercalcemia of malignancy (HCM) is a rare but life‐threatening metabolic emergency in children that occurs in less than 1% of pediatric cancer cases, with a reported incidence ranging from 0.4% to 1.0% across different studies. While it is observed in 10%–20% of adult malignancies, pediatric HCM remains relatively uncommon.
Hüseyin Anıl Korkmaz
wiley   +1 more source

A case of nephrocalcinosis in a 7‐month‐old with congenital hypothyroidism: Insights from targeted exome sequencing

Pediatric Discovery
Nephrocalcinosis is a complex disease with a multitude of triggering factors. An association with congenital hypothyroidism has been described in the literature, but the mechanisms leading to its development remain unclear. A 7‐month‐old infant presented
Omar Zgheib, Lina Quteineh, Paloma Parvex, Caterina Marconi, Valerie Schwitzgebel, Massimiliano Bertacchi   +5 more
doaj   +1 more source

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +1 more source

Expanding the MRPS34 Genotype–Phenotype Correlation: Two Novel Cases and a Cohort Review

JIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT MRPS34 encodes a mitoribosomal protein essential for mitochondrial translation. Biallelic pathogenic variants in MRPS34 cause Combined Oxidative Phosphorylation Deficiency 32 (COXPD32), a rare mitochondrial disorder within the Leigh syndrome spectrum (LSS), ranging from fatal in infancy to adult survival.
Alberte Aspaas Lundquist, Sumit Parikh, Thomas van Overeem Hansen, Flemming Wibrand, Elsebet Østergaard   +4 more
wiley   +1 more source

Neonatal nephrocalcinosis: long term follow up

, 2006
Aims: To assess the spontaneous resolution of neonatal nephrocalcinosis and its long term effects on renal function. Methods: Fourteen very low birthweight preterm babies with nephrocalcinosis were followed up at 5–7 years of age; 14 controls were ...
Beattie, T.J., Porter, E., McKie, A., McColl, J.H.   +3 more
core   +1 more source

Outcomes and adverse effects of teduglutide treatment with periodic withdrawal in pediatric short bowel patients

Journal of Pediatric Gastroenterology and Nutrition, Volume 83, Issue 1, Page 37-45, July 2026.
Abstract Objectives We evaluated the efficacy and safety of teduglutide in a real‐world cohort in which national reimbursement policies required treatment interruptions. The primary outcomes were reduction in parenteral support (PS) and treatment‐related adverse effects, and the secondary outcome was the impact of the mandated withdrawal periods ...
Riikka Gunnar, Annika Mutanen, Mikko P. Pakarinen, Laura Merras‐Salmio   +3 more
wiley   +1 more source