Results 31 to 40 of about 8,642 (174)

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2140-2150, September 2026.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta, Kaitlyn N. Bloom, Jerry Vockley, Angela R. Grochowsky, Neena S. Agrawal, Ellen W. Strickler, Natalie N. Owen, Erica T. Gray, B. Lakshitha A. Perera, Eric R. Gamazon, Lynette C. Rives, Hua‐Chang Chen, Qi Liu, Rizwan Hamid, Joy D. Cogan, John A. Phillips III, Thomas A. Cassini, Bryce A. Schuler   +17 more
wiley   +1 more source

A Case of Failure to Thrive- Investigation Beyond a Positive Sweat Test

Çocuk Dergisi, 2021
Failure to thrive represents a difficult entity to define and can be associated with several diseases. Therefore, combining all the data (family history, perinatal and infancy information) with the physical examination and laboratory findings is a ...
Sara Maria Mosca Ferreira Da Silva, Telma Barbosa, Ana Teixeira, Céu R. Mota, Teresa Costa, Liane Correia Costa   +5 more
doaj   +1 more source

Reduced Expression of Magnesium Transport Proteins in the Distal Convoluted Tubule of Clcnkb‐Deficient Mice May Explain Urinary Magnesium Wasting in Classical Bartter Syndrome

Acta Physiologica, Volume 242, Issue 9, September 2026.
ABSTRACT Aim The kidney thick ascending limb (TAL) plays a key role in the transport of sodium, chloride, potassium, calcium, and magnesium. Bartter syndrome is a hypokalemic, salt‐losing tubulopathy caused by impaired TAL function. Pathogenic variants in SLC12A1 or KCNJ1 cause antenatal Bartter syndrome, and variants in CLCNKB result in classical ...
Marleen L. A. Kortenoeven, Milos Bogdanovic, Ida Appel, Karsten Skjødt, Ernst‐Martin Fuchtbauer, Kirsten Madsen, Lars Lund, Régine Chambrey, Dominique Eladari, R. Todd Alexander, Christian A. Hübner, J. Christopher Hennings, Henrik Dimke   +12 more
wiley   +1 more source

Expression of osteogenic proteins in kidneys of cats with nephrocalcinosis

Journal of Veterinary Internal Medicine
Background Nephrocalcinosis is a common pathological finding in cats with chronic kidney disease and nephrolithiasis. Understanding its pathogenesis may identify future therapeutic targets.
Nuttha Hengtrakul, Eva Furrow, Michael Borofsky, Ferenc Toth, Jody P. Lulich   +4 more
doaj   +1 more source

Hypercalciuria caused by CYP24A1 mutation: Fourteen years of the patient’s follow-up [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2018
Introduction. Recently, inactivation mutations of CYP24A1, the gene encoding vitamin D 24-hydroxylase, were identified in hypercalciuric nephrolithiasis and nephrocalcinosis.
Peco-Antić Amira, Ivelja Biljana, Miloševski-Lomić Gordana, Paripović Dušan, Konrad Martin   +4 more
doaj   +1 more source

Vitamin D Intoxication in Three Children With Varied Manifestations: A Case Series and Review

Journal of Pediatrics Review, 2021
Background: Inadvertent and erroneous prescription of vitamin D beyond the recommended dosage and route of administration can cause vitamin D intoxication in children. Infants are particularly vulnerable to such toxicity.
Manas Ranjan Behera, Bijay Kumar Meher, Chinmay Kumar Behera, Sibabratta Patnaik   +3 more
doaj   +1 more source

G6PC Downregulation Promotes Renal Calcium Oxalate Stone Formation via Lactate‐Induced SNAIL1 K206 Lactylation and Epithelial‐Mesenchymal Transition

Advanced Science, Volume 13, Issue 43, 3 August 2026.
In renal calcium oxalate stone formation, G6PC downregulation leads to lactate accumulation. This lactate mediates CBP/p300‐dependent lactylation of SNAIL1 at K206, promoting its nuclear translocation. Nuclear SNAIL1 activates the TGF‐β/SMAD3 pathway, driving epithelial‐mesenchymal transition and fibrosis, which ultimately facilitates crystal ...
Kai Liu, Boming Zhang, Ruixin Fan, Chen Duan, Yangjun Zhang, Huahui Wu, Xiangyang Yao, Xiongmin Mao, Bo Li, Youmiao Zeng, Zhenzhen Xu, Yang Wang, Mengcheng Luo, Xinyu Xu, Ninghan Feng, Heng Li, Hua Xu   +16 more
wiley   +1 more source

Lanthanum carbonate to control plasma and urinary oxalate level in type 1 primary hyperoxaluria?

IJU Case Reports, 2021
Introduction The therapy to reduce urinary oxalate excretion in primary hyperoxaluria type 1 is still required. Case presentation A 37‐year‐old hemodialyzed man suffered from systemic oxalosis secondary to primary hyperoxaluria type 1 exhibited a drastic
Agnieszka Pozdzik, Cristina David, Jelle Vekeman, Frederik Tielens, Michel Daudon   +4 more
doaj   +1 more source

Dihydrotachysterol: a bad choice in the treatment of chronic hypoparathyroidism

Ожирение и метаболизм, 2022
Hypoparathyroidism is an endocrine disease caused by damage of the parathyroid glands and characterized by underproduction of parathyroid hormone. This can lead to severe hypocalcemia and its associated complications.
E. S. Avsievich, E. V. Kovaleva, A. M. Gorbacheva, A. K. Eremkina, N. G. Mokrysheva   +4 more
doaj   +1 more source

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