Results 61 to 70 of about 1,864 (192)

Benzbromarone Inhibits Renal URAT1 and Attenuates Renal Damage in Streptozotocin‐Induced Diabetic Rats, Independent of Its Uricosuric Effects

Journal of Diabetes Research, Volume 2025, Issue 1, 2025.
Background Hyperuricemia remains a critical risk factor for diabetic kidney disease (DKD) currently. Recent studies have confirmed that allopurinol, an inhibitor of xanthine oxidase (XO), does not have any beneficial effects on DKD. However, it is still unclear how uricosurics, such as benzbromarone (BZ), affect the progression of DKD.
Chuping Chen, Ping Zhu, Rongshao Tan, Yan Liu, Jianmin Ran, Hannah Wesley   +5 more
wiley   +1 more source

Immunodeficiency, motor delay, and hypouricemia caused by a novel mutation of purine nucleoside phosphorylase gene in an Indian infant

Annals of Indian Academy of Neurology, 2019
We describe an 11-month-old boy who presented with recurrent respiratory infections from 6 months of age. His elder sister died at 10 months with severe septicemia and meningitis. The boy had a mild motor delay.
Nikit Shah, Lokesh Lingappa, Ramesh Konanki, Sirisha Rani, Ramprasad Vedam, Sakthivel Murugan   +5 more
doaj   +1 more source

Role of uric acid in neurodegenerative diseases, focusing on Alzheimer and Parkinson disease: A new perspective

Neuropsychopharmacology Reports, Volume 44, Issue 3, Page 639-649, September 2024.
Findings from different studies highlighted the neuroprotective role uric acid against the development and progression of AD and PD. The neuroprotective effect of uric acid is mediated by mitigating oxidative stress‐induced neurodegeneration. Long‐term effect of hyperuricemia predisposes for the development and progression of cognitive impairment by ...
Mohammed Alrouji, Hayder M. Al‐kuraishy, Ali I. Al‐Gareeb, Mohammed S. Alshammari, Athanasios Alexiou, Marios Papadakis, Mostafa M. Bahaa, Gaber El‐Saber Batiha   +7 more
wiley   +1 more source

A case of idiopathic renal hypouricemia.

Nihon Naika Gakkai Zasshi, 1994
分泌前再吸収障害型と診断された特発性腎性低尿酸血症(血清尿酸値0.7mg/dl)の1例を報告する.今回,従来の報告では検討されたことのないパラアミノ馬尿酸(PAH)の尿細管分泌極量(TmPAH)を測定したところ, 85.1mg/minと正常値を示し,尿酸の転送機構のみが障害されていることが証明された.
H, Matsuda, F, Ideguchi, G, Tomori, K, Hirosse, M, Shichiri, K, Tomita, F, Marushige   +6 more
openaire   +3 more sources

Homozygous mutations of GLUT9 cause severe renal hypouricemia

, 2009
Hereditary hypouricemia may result from mutations in the renal tubular uric acid transporter URAT1. Whether mutation of other uric acid transporters produces a similar phenotype is unknown.
Sawyer, Lindsay, Amariglio, Ninette, Campbell, Susan, Shu, Xinhua, Richardson, William, Gray, Nicola K., Rechavi, Gideon, Dinour, Dganit, S. Campbell, L. Sawyer, E. J. Holtzman, J. Weissgarten, A. F. Wright, N. K. Gray, G. Rechavi, M. R. Millar, X. Shu, N. Amariglio, D. Dinour, M. Goldman, B.-A. Sela, L. Ganon, H. Bahat, W. Richardson   +23 more
core   +1 more source

A 10‐year follow‐up of high‐dose ambroxol treatment combined with enzyme replacement therapy for neuropathic Gaucher disease

American Journal of Hematology, Volume 99, Issue 7, Page 1396-1399, July 2024.
High‐dose ambroxol therapy combined with ERT in patients with neuropathic Gaucher disease.
Soojin Hwang, Hyunwoo Bae, Ji‐Hee Yoon, Dohyung Kim, Hyo‐Sang Do, Sun Hee Heo, Soyoung Kim, Han‐Wook Yoo, Majdolen Istaiti, Ari Zimran, Beom Hee Lee   +10 more
wiley   +1 more source

Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies

Journal of Inherited Metabolic Disease, Volume 47, Issue 4, Page 598-623, July 2024.
Abstract Sulfite intoxication is the hallmark of four ultrarare disorders that are caused by impaired sulfite oxidase activity due to genetic defects in the synthesis of the molybdenum cofactor or of the apoenzyme sulfite oxidase. Delays on the diagnosis of these disorders are common and have been caused by their unspecific presentation of acute ...
Bernd C. Schwahn, Francjan van Spronsen, Albert Misko, Julija Pavaine, Victoria Holmes, Ronen Spiegel, Guenter Schwarz, Flora Wong, Alistair Horman, James Pitt, Jörn Oliver Sass, Charlotte Lubout   +11 more
wiley   +1 more source

HYPOURICEMIA IN HOSPITALIZED DIABETIC PATIENTS

, 1997
To determine the incidepce and clinicopathological characteristics of hypouricemia in patients with diabetes mellitus, we studied 473 consecutive hospitalized diabetic patients.
Kikawa, Tadatoshi, Kawano, Takahiro, Fujimoto, Takashi, Kanauchi, Masao, Shiiki, Hideo, Dohi, Kazuhiro, Nishioka, Hisayuki   +6 more
core   +1 more source

Tenofovir induced Fanconi syndrome in a middle age African female from Kenya, East Africa: Case report and brief literature review

Clinical Case Reports, Volume 12, Issue 6, June 2024.
Key Clinical Message This case presentation highlights the need to routinely monitor renal function in patients on Tenofovir Disoproxil Fumarate (TDF) due to its side effect of proximal tubule dysfunction. Abstract This is a case presentation of a 50‐year‐old African female who had been on a Tenofovir based regimen for 12 years and developed Fanconi ...
Fredrick Odhiambo, Shallot Nareeba, Grace Mwangeka, Ann Njambi, Vashti Nyakebati   +4 more
wiley   +1 more source

ASYMPTOMATIC HYPOURICEMIA: A CLINICAL CASE [PDF]

Hypouricemia is a sporadic problem in medicine and is mentioned for relationship to some clinical disorders. Here, the authors report a case of hypouricemia in asymptomatic patient. The positive findings in this patient are high fasting blood glucose and
YASRI, SORA
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