Results 81 to 90 of about 43,436 (236)

Carbohydrate‐Based Drug Discovery: Synthetic Strategies and Clinical Applications

Israel Journal of Chemistry, Volume 66, Issue 3, May 2026.
The picture depicts the molecules discussed in the review. On the left side, the general scaffold of sugars is shown. Next to it are four carbohydrate‐based molecules, including remdesivir, islatravir, empagliflozin, and Globo‐H. Remdesivir and islatravir contain a substituted ribose ring attached to a modified nucleobase.
Stephan Scheeff, Jemma Arakelyan, Billy Wai‐Lung Ng   +2 more
wiley   +1 more source

Relevance of ultrasound examination in general practice. A case report of a patient with autosomal dominant polycystic kidney disease

Journal of Ultrasonography, 2013
Autosomal dominant polycystic kidney disease is a genetic disorder which results in the development of multiple cysts in the kidneys and other parenchymal organs. The two genes in which mutations are known to cause autosomal dominant polycystic kidney
Izabela Cwojdzińska-Jankowska, Anna Plewa   +1 more
doaj  

Combined Liver and Kidney Transplant in a Patient with Budd-Chiari Syndrome Secondary to Autosomal Dominant Polycystic Kidney Disease Associated with Polycystic Liver Disease: Report of a Case with a 9-Year Follow-Up

Case Reports in Gastrointestinal Medicine, 2014
Polycystic liver disease (PLD) is a hereditary disease inherited by autosomal dominant trait that occurs as a frequent extrarenal manifestation of autosomal dominant polycystic kidney disease (ADPKD).
Patricia Ramírez de la Piscina, Ileana Duca, Silvia Estrada, Rosario Calderón, Idoia Ganchegui, Amaia Campos, Katerina Spicakova, Leire Urtasun, Marta Salvador, Elvira Delgado, Raquel Bengoa, Francisco García-Campos   +11 more
doaj   +1 more source

T1 vs. T2 weighted magnetic resonance imaging to assess total kidney volume in patients with autosomal dominant polycystic kidney disease [PDF]

, 2017
Purpose: In ADPKD patients total kidney volume (TKV) measurement using MRI is performed to predict rate of disease progression. Historically T1 weighted images (T1) were used, but the methodology of T2 weighted imaging (T2) has evolved.
A. Lianne Messchendorp, Gert J. ter Horst, Maatje D. A. van Gastel, Marissa de Jong, Merel A. Kaatee, null null, Peter Kappert, Remco J. Renken, Ron T. Gansevoort, Shekar V. K. Mahesh   +9 more
core   +1 more source

Identification of a Novel De Novo Heterozygous SEC61A1 Variant in a Patient With Severe Congenital Neutropenia

Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
Severe congenital neutropenia can be caused by rare SEC61A1 variants. We report a child with SCN showing granulocytic maturation arrest and abnormal immunophenotype, carrying a novel de novo SEC61A1 p.Trp379Arg variant, expanding the phenotypic and genetic spectrum of SEC61A1‐associated SCN.
Zixuan Wang, Hui Jing, Yuhan Chen, Ling Zhong, Jiyun Yang   +4 more
wiley   +1 more source

An 11-Year-Old Child with Autosomal Dominant Polycystic Kidney Disease Who Presented with Nephrolithiasis

Case Reports in Medicine, 2012
Patients with autosomal dominant polycystic kidney disease become symptomatic and are diagnosed usually at adulthood. The rate of nephrolithiasis in these patients is 5–10 times the rate in the general population, and both anatomic and metabolic ...
Fatih Firinci, Alper Soylu, Belde Kasap Demir, Mehmet Turkmen, Salih Kavukcu   +4 more
doaj   +1 more source

KDIGO 2025 clinical practice guideline for the evaluation, management, and treatment of autosomal dominant polycystic kidney disease (ADPKD): executive summary.

Kidney International
The Kidney Disease: Improving Global Outcomes (KDIGO) 2025 Clinical Practice Guideline for the Evaluation, Management, and Treatment of Autosomal Dominant Polycystic Kidney Disease (ADPKD) represents the first KDIGO guideline on this subject.
Vicente E. Torres, Curie Ahn, T. Barten, G. Brosnahan, M. Cadnapaphornchai, Arlene B. Chapman, Emilie Cornec-Le Gall, J. Drenth, Ron T. Gansevoort, Peter C. Harris, Tess Harris, Shigeo Horie, M. Liebau, Michele Liew, A. Mallett, Changlin Mei, D. Mekahli, Dwight Odland, A. Ong, L. Onuchic, York Pei, Ronald D. Perrone, G. Rangan, B. Rayner, Roser Torra, Ethan M. Balk, Craig E. Gordon, Amy Earley, R. Mustafa, Olivier Devuyst   +29 more
semanticscholar   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Fetal polycystic kidney disease: Pathological overview

Journal of the Scientific Society, 2013
Polycystic kidney disease is a rare developmental anomaly inherited as autosomal dominant or autosomal recessive. It is characterized by cystic dilatation of the collecting ducts frequently associated with hepatic involvement and progression to renal ...
Sunita B Patil, Madhura D Paricharak, Deepak G Paricharak, S S More   +3 more
doaj   +1 more source

The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16 [PDF]

, 1994
Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic disorder that frequently results in renal fallure due to progressive cyst development. The major locus, PKD1, maps to 16p13.3.
Breuning, M.H. (Martijn), Brook-Carter, P.T. (Phillip), Buckle, P. (Peter), Cabral, P. (Pedro), Cordeiro, I. (Isabel), Dauwerse, H.G. (Hans), Eussen, H.J.F.M.M. (Bert), Gamble, V. (Vicki), Halley, D.J.J. (Dicky), Harris, P.C. (Peter), Hesseling-Janssen, A.L.W. (Arjenne), Higgs, D. (Douglas), Hughes, J. (Jim), Janssen, L.A.J. (Bart), Kearney, P. (Peter), Lindhout, D. (Dick), MacCarthy, A.B. (Angela), Maheshwar, M.M. (Magitha), Nellist, M.D. (Mark), Ouweland, A.M.W. (Ans) van den, Peral, B. (Belén), Peters, D. (Dorien), Ratcliffe, C., Roelfsema, J.H. (Jeroen), Sampson, J. (Julian), Santos, H. (Heloisa), Saris, J.J. (Jasper), Sloane-Stanley, J. (Jackie), Spruit, L. (Lia), Thomas, S. (Siep), Verhoef, S., Ward, C.J. (Christopher)   +31 more
core   +1 more source