Results 91 to 100 of about 7,637 (215)

Molecular based newborn screening in Germany: Follow-up for cystinosis

Molecular Genetics and Metabolism Reports, 2019
Background: Newborn screening (NBS) programs for treatable metabolic disorders have been enormously successful, but molecular-based screening has not been broadly implemented so far.
Katharina Hohenfellner, Carsten Bergmann, Tobias Fleige, Nils Janzen, Siegfried Burggraf, Bernd Olgemöller, William A. Gahl, Ludwig Czibere, Sonja Froschauer, Wulf Röschinger, Katharina Vill, Erik Harms, Uta Nennstiel   +12 more
doaj   +1 more source

Fainting Fanconi syndrome clarified by proxy: a case report [PDF]

, 2017
BACKGROUND: Rare diseases may elude diagnosis due to unfamiliarity of the treating physicians with the specific disorder. Yet, advances in genetics have tremendously enhanced our ability to establish specific and sometimes surprising diagnoses.
Bass, P, Bockenhauer, D, Ellard, S, Hussain, K, Kleta, R, Unwin, R, Van't Hoff, W, Walsh, SB   +7 more
core   +4 more sources

Targeting Lysosomal Thiols for Immunogenic Cancer Cell Death

Angewandte Chemie, Volume 137, Issue 5, January 27, 2025.
We described reversible thiol binder 11, which accumulates in lysosomes of cancer cells, increases the level of ROS leading to their disruption and immunogenic cancer cell death. In murine sarcoma Nemeth‐Kellner model, 11 extends the lifespan of the mice from 21 to 85 days and cures 40 % of mice.
Anton Arkhypov, Insa Klemt, Galyna Bila, Dina Attia, Svitlana Chernii, Rostyslav Bilyy, Andriy Mokhir   +6 more
wiley   +1 more source

Renal Transplantation in Patients with Cystinosis – A Case Series

Indian Journal of Transplantation
Cystinosis is a rare autosomal recessive lysosomal storage disorder causing intracellular accumulation of cystine in different organs, leading to several organ dysfunctions. Renal involvement is the most serious manifestation of cystinosis leading to end-
Yashwanth Raj Thiagarajan, Dinesh Kannabhiran, Kanakaraj Arumugham, Rajan Ravichandran   +3 more
doaj   +1 more source

Infantile Nephropathic Cystinosis in Sulaimani Pediatric Teaching Hospital: A Retrospective Cohort Study

Kurdistan Journal of Applied Research, 2018
Cystinosis is a rare metabolic autosomal recessive disorder which characterized by intralysosomal accumulation of cystine. There are three forms; infantile nephropathic is the commonest forms.
Hunar Jamal Hussein, Khalid Hama Salih, Adnan Mohammed Hasan   +2 more
doaj   +1 more source

Characterizing pre-transplant and post-transplant kidney rejection risk by B cell immune repertoire sequencing. [PDF]

, 2019
Studying immune repertoire in the context of organ transplant provides important information on how adaptive immunity may contribute and modulate graft rejection. Here we characterize the peripheral blood immune repertoire of individuals before and after
Liberto, Juliane M, Pineda, Silvia, Sarwal, Minnie M, Sigdel, Tara K, Sirota, Marina, Vincenti, Flavio   +5 more
core   +3 more sources

Computational Drug Repositioning in Cardiorenal Disease: Opportunities, Challenges, and Approaches

PROTEOMICS, Volume 25, Issue 11-12, June 2025.
Paul Perco, Matthias Ley, Kinga Kęska‐Izworska, Dorota Wojenska, Enrico Bono, Samuel M. Walter, Lucas Fillinger, Klaus Kratochwill   +7 more
wiley   +1 more source

Immune-Mediated Inflammation May Contribute to the Pathogenesis of Cardiovascular Disease in Mucopolysaccharidosis Type I. [PDF]

, 2016
BackgroundCardiovascular disease, a progressive manifestation of α-L-iduronidase deficiency or mucopolysaccharidosis type I, continues in patients both untreated and treated with hematopoietic stem cell transplantation or intravenous enzyme replacement ...
Dickson, Patricia I, Ellinwood, N Matthew, Esko, Jeffrey D, Gordts, Philip L, Khalid, Omar, Schwartz, Philip H, Vera, Moin U, Wang, Raymond Y   +7 more
core   +3 more sources

Treatment of corneal cystine crystal accumulation in patients with cystinosis

Clinical Ophthalmology, 2014
Fatemeh Shams, Iain Livingstone, Dilys Oladiwura, Kanna Ramaesh Department of Ophthalmology, Gartnavel General Hospital, Glasgow, Scotland Abstract: Cystinosis is a rare autosomal recessive disorder characterized by the accumulation of cystine within ...
Shams F, Livingstone I, Oladiwura D, Ramaesh K   +3 more
doaj  

Differential diagnosis of (inherited) amino acid metabolism or transport disorders [PDF]

, 1992
__Abstract__ Disorders of amino acid metabolism or transport are most clearly expressed in urine. Nevertheless the interpretation of abnormalities in urinary amino acid excretion remains difficult. An increase or decrease of almost every amino acid in
Blom, W.A.M. (Wim), Huijmans, J.G.M. (Jan)   +1 more
core   +2 more sources