Results 41 to 50 of about 5,039 (197)

Urine-Derived Kidney Progenitor Cells in Cystinosis

Cells, 2022
Nephropathic cystinosis is an inherited lysosomal storage disorder caused by pathogenic variants in the cystinosin (CTNS) gene and is characterized by the excessive shedding of proximal tubular epithelial cells (PTECs) and podocytes into urine ...
Koenraad Veys, Sante Princiero Berlingerio, Dries David, Tjessa Bondue, Katharina Held, Ahmed Reda, Martijn van den Broek, Koen Theunis, Mirian Janssen, Elisabeth Cornelissen, Joris Vriens, Francesca Diomedi-Camassei, Rik Gijsbers, Lambertus van den Heuvel, Fanny O. Arcolino, Elena Levtchenko   +15 more
doaj   +1 more source

Ocular Involvement in Patients with Infantile Nephropathic Cystinosis [PDF]

Cystinosis is a rare autosomal recessive lysosomal storage disease associated with high mortality and morbidity rates. The most distinctive ocular manifestations of cystinosis are photophobia, tearing, and blurred vision.
Banu Bozkurt, Sema Üzüm, Ayşe Bozkurt Oflaz, Emine Tınkır Kayıtmazbatır, Sadagat Guluzade   +4 more
core   +1 more source

Intermediate cystinosis: a case report of 10-year treatment with cysteamine

BMC Nephrology
Background Cystinosis is a lysosomal storage disorder characterized by an autosomal recessive phenotype. Intermediate cystinosis, which progresses slowly and causes renal failure, accounts for approximately 5% of all cystinosis cases.
Mariko Kawamura, Daisuke Katagiri, Yuuka Yamamoto, Keiki Shimada, Satomi Higashi, Masako Otani, Noriko Uesugi, Hideki Takano, Yukiko Shimizu, Tadashi Okamura   +9 more
doaj   +1 more source

Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Nutritional therapy is critical in managing inherited metabolic diseases (IMDs), and includes specialized diets and single nutritional therapy products (sNTPs) such as vitamins, cofactors, and amino acids. Many sNTPs function as medicines, but are regulated as food (e.g., food supplements), which can limit access, reimbursement, and consistent
Nina N. Stolwijk, Bart M. F. Penninx, Annet M. Bosch, Mirjam Langeveld, Gajja S. Salomons, Carla E. M. Hollak, Essential Nutritional Therapy Products for IMDs Consensus Group, Dorothea Möslinger, Saskia Wortmann, David Cassiman, Pavel Ješina, Jiri Zeman, Allan M. Lund, François Feillet, Nazi Tabatadze, Sarah C. Grünert, Anke Schumann, Ute Spiekerkoetter, Ulrike Mütze, Thomas Opladen, Anastasia Skouma, Ina Knerr, Serena Gasperini, Vincenza Gragnaniello, Mariarosa (Marina) Anna Beatrice Melone, Francesca Nardecchia, Alessandro La Rosa, Birutė Tumienė, Margreet Wagenmakers, Terry Derks, Camilla Tøndel, Beata Kieć‐Wilk, Urh Groselj, Amaya Bélanger‐Quintana, Javier De las Heras, Mireia del Toro Riera, Eva Venegas Moreno, Matthias Gautschi, Johannes Häberle, Elaine Murphy   +39 more
wiley   +1 more source

The Pitfall of White Blood Cell Cystine Measurement to Diagnose Juvenile Cystinosis [PDF]

, 2023
Cystinosis is an autosomal recessive lysosomal storage disease, caused by mutations in the CTNS gene, resulting in multi-organ cystine accumulation. Three forms of cystinosis are distinguished: infantile and juvenile nephropathic cystinosis affecting ...
Koenraad Veys, Elena Levtchenko, Veys, Koenraad, Heuvel, L.P.W.J. van den, Bondue, Tjessa, Tjessa Bondue, Kouraich, Anas, Al-Sabban, Essam, Lambertus van den Heuvel, Sante Princiero Berlingerio, Berlingerio, Sante Princiero, Marie, Sandrine, Berlingerio, S.P., Levtchenko, Elena, Khaled O. Alsaad, Essam Al-Sabban, Sandrine Marie, Bondue, T., Levtchenko, E.N., Anas Kouraich, Veys, K., Alsaad, Khaled O., van den Heuvel, Lambertus   +22 more
core   +1 more source

Role of biomarkers of inflammation and MRI technique for the early detection of cystinosis-associated myopathy

Egyptian Pediatric Association Gazette
Background Cystinosis is an autosomal recessive lysosomal storage disorder caused by cystine crystals accumulation within lysosomes resulting in multi-organ dysfunction.
Rasha Helmy, Rasha Selim Mahmoud, Mohamed A. Elmonem, Sally Emadeldin, Neveen Abd Elmonem Soliman   +4 more
doaj   +1 more source

Non-invasive intradermal imaging of cystine crystals in cystinosis.

PLoS ONE, 2021
ImportanceDevelopment of noninvasive methodology to reproducibly measure tissue cystine crystal load to assess disease status and guide clinical care in cystinosis, an inherited lysosomal storage disorder characterized by widespread cystine crystal ...
Marya Bengali, Spencer Goodman, Xiaoying Sun, Magdalene A Dohil, Ranjan Dohil, Robert Newbury, Tatiana Lobry, Laura Hernandez, Corinne Antignac, Sonia Jain, Stephanie Cherqui   +10 more
doaj   +1 more source

Investigation of Torque Teno Virus Loads as a Marker of Immunosuppression in Pediatric Chronic Renal Failure: A Pilot Study

Pediatric Transplantation, Volume 30, Issue 11, November 2026.
TTV is a promising marker to assess immune competence in a cohort of pediatric renal transplant recipients. Based on our data, immunosuppressive status and gender‐related factors affect TTV kinetics after transplantation and should be considered when interpreting TTV as a biomarker of immune function. ABSTRACT Background Torque Teno Virus (TTV), family
Ellen Kelly, Atif Awan, Dermot Wildes, Cillian F. De Gascun, Richard J. Drew, Alessandra Heggenstaller, Michael Riordan, Jaythoon Hassan   +7 more
wiley   +1 more source

Trafficking Deficiency of TMEM175 Variants in Parkinson's Disease Pathogenesis and the Prospects of Precision Medicine

Advanced Science, Volume 13, Issue 57, 14 October 2026.
This study identifies that the PD‐associated TMEM175‐L156P variant disrupts lysosomal ion channel trafficking by causing aberrant endoplasmic reticulum retention. A “chaperone–agonist” bifunctional small molecule restores TMEM175‐L156P lysosomal localization and channel function, thereby alleviating PD‐relevant cellular phenotypes and highlighting a ...
Ting Luo, Yu He, Shuyao Li, Haoyu Guan, Ruili Cui, Yu Shi, Zhongwen Jiang, Siyu Wang, Xuan Li, Jiyuan Li, Mei Hu, Yupeng Zhou, Beisha Tang, Yanyan Zhang, Zhaobing Gao, Yu Zhou, Zhenhua Liu, Ping Li   +17 more
wiley   +1 more source

Cystinosis and two rare mutations in CTNS gene: two case reports

Journal of Medical Case Reports, 2022
Background Cystinosis is an autosomal recessive disorder characterized by an accumulation of the amino acid cystine in lysosomes throughout the body. Cystinosis is an inherited disease resulting from the failure of lysosomal cystine transport.
Sepideh Gholami Yarahmadi, Fatemeh Sarlaki, Saeid Morovvati   +2 more
doaj   +1 more source