Results 101 to 110 of about 771,384 (234)

Gene‐Guided Therapy in Type 2 Diabetes Mellitus: An Integrative Review of the Pharmacogenetics of Metformin and Sodium‐Glucose Cotransporter‐2 Inhibitors

Endocrinology, Diabetes &Metabolism, Volume 9, Issue 6, November 2026.
Genetic variation influences the pharmacological response to metformin and SGLT2 inhibitors in patients with type 2 diabetes mellitus. Pharmacogenetic biomarkers affecting drug transport, metabolism and target activity contribute to inter‐individual differences in treatment efficacy and adverse effects, supporting the implementation of personalized ...
Imran Hossain, Mahnoor Haidar, Mahfuj Ahmed Ratul, Jannatul Ferdous Sumona, Sraboni Shabnaz, Abul Fojal Nokib, Fatema‐Tuz‐Zohora   +6 more
wiley   +1 more source

Improving outcomes for patients with distal renal tubular acidosis: recent advances and challenges ahead

, 2018
Toru Watanabe Department of Pediatrics, Niigata City General Hospital, Niigata City 950-1197, Japan Abstract: Primary distal renal tubular acidosis (dRTA) is a rare genetic disorder caused by impaired distal acidification due to a failure of type A ...
Watanabe T
core  

Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Primary pyruvate dehydrogenase complex deficiency (PDCD) comprises a group of monogenic disorders caused by pathogenic variants in genes encoding subunits of, or regulatory components affecting, the pyruvate dehydrogenase complex. The clinical phenotype spans a broad continuum, ranging from early onset congenital lactic acidosis to infantile ...
Nandaki Keshavan, Julia Neugebauer, Marcello Bellusci, Enrico Bertini, Garry Brown, Niklas Darin, Suzanne DeBrosse, Lucy Drexler, Stefan Drexler, Gregory M. Enns, Rebecca D. Ganetzky, Kelly Gilbert, Austin Larson, Rebecca Legi, April N. Lehman, Camile Newby, Manuel Schiff, Rachel Skeath, Peter W. Stacpoole, Sarah Thompson, Emma Watt, Saskia B. Wortmann, Jirair K. Bedoyan, Shamima Rahman   +23 more
wiley   +1 more source

Nefrotoxicidad tubular proximal inducida por sobredosis de tenofovir: reporte de un caso de síndrome de Fanconi incompleto

Revista Médica Herediana
Mujer de 21 años admitida por intento autolítico tras ingesta de 28 tabletas de tenofovir/lamivudina/dolutegravir, administradas en el contexto de una profilaxis posexposición al virus de la inmunodeficiencia humana (VIH) luego de una agresión sexual ...
Esteban Ochoa-Robles, Glenda Jiménez-Alulima, Lenin Saltos-Iñiguez, Carlos Ortega-Espinoza, Maribel Carlosama-Mora   +4 more
doaj   +1 more source

Tailored Amino Acid Treatment for Pediatric Patients With Mitochondrial Aminoacyl‐tRNA Synthetase Deficiencies

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Aminoacyl‐tRNA synthetases (ARSs) facilitate the loading of transfer RNAs with their cognate amino acids in the cytosol (ARS1), mitochondria (ARS2), or both (dual ARS). ARS deficiencies are clinically heterogeneous and can cause severe, occasionally fatal disease.
I. J. J. Muffels, G. Kok, Z. Tang, L. S. Medeiros, F. O. Poswar, W. P. Vermeij, R. Rodenburg, K. Smit, S. K. Sukumaran, S. B. Wortmann, L. Averdunk, J. Munch, J. Pak‐lam Ho, A. M. K. Kwok, E. E. S. Nieuwenhuis, P. M. van Hasselt, I. V. D. Schwartz, C. M. A. Lubout, A. M. Bosch, K. Koop, E. M. M. Hoytema van Konijnenburg, S. A. Fuchs   +21 more
wiley   +1 more source

Advancing Personalized Care for Neurogenic Bladder: The Case for Continent Urinary Diversion

Neurourology and Urodynamics, Volume 45, Issue 8, Page 1489-1492, November 2026.
ABSTRACT Introduction Neurogenic lower urinary tract dysfunction (NLUTD) with a poorly compliant bladder that is refractory to minimally invasive therapies (MIT) represents an “end‐stage” phenotype in which the principal objectives are durable upper urinary tract protection and restoration of continence with acceptable long‐term morbidity.
Francis A. Jefferson, Maude E. Carmel
wiley   +1 more source

Acidosis tubular renal. Presentación de dos casos clínicos

, 1975
La acidosis tubular renal es una entidad nosológica en que hay incapacidad de acidificar la orina por insuficiencia tubular, con función glomerular poco o nada alterada.
Borie B., Gilda, Ochoa A., Edecia, Cortés N., Miriam   +2 more
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Severe hypercalcemia; as an unusual presenting feature of distal renal tubular acidosis

, 2010
Distal renal tübüler asidozlu hastalarda nefrokalsinoz sık bir bulgu olmasına rağmen, bu hastalar genellikle normokalsemiktir. Çocukluk çağında hiperkalseminin bir nedeni olarak distal renal tübüler asidoz nadir bir durumdur. Bu yazımızda hiperkalsemi ve
Yüksel, Selçuk
core   +1 more source

Gastroschisis‐Like Defect in a Crossbred Bovine Calf: Anatomical, Clinical and Surgical Perspectives

Veterinary Medicine and Science, Volume 12, Issue 6, November 2026.
A gastroschisis‐like defect was observed in a one‐day‐old, crossbred bovine calf with evisceration of the pyloric abomasum and small intestine, likely resulting from prenatal rupture of an omphalocele. The calf presented with lethargy, hypothermia and metabolic derangements, along with elevated renal biomarkers.
Mohammad Raguib Munif, Tanjin Tamanna Mumu   +1 more
wiley   +1 more source

Severe pseudohyperkalaemia in a cat with profound creatine kinase elevation after suspected trauma

Veterinary Record Case Reports, Volume 14, Issue 4, November 2026.
Abstract A 5‐year‐old, neutered, male domestic shorthair cat (5.0 kg) was presented for acute lethargy and inappetence after a suspected traumatic event. The cat was painful over the caudal abdomen and lumbar region, with superficial abrasions.
Yasumasa Iimori, Aimee C. Brooks, Erica Childress   +2 more
wiley   +1 more source