Results 81 to 90 of about 7,764 (252)
A severe course of serogroup W meningococcemia in a patient with infantile nephropathic cystinosis
Human Vaccines & Immunotherapeutics, 2020 We present a 9-month old boy with cystinosis admitted to our hospital with the complaints of vomiting, diarrhea and seizure. While he was hospitalized in a pediatric intensive care unit due to worsening of his signs related to cystinosis, within hours ...
Gurkan Bozan +7 more
doaj +1 more source
Ophthalmic Evaluation of Diagnosed Cases of Eye Cystinosis: A Tertiary Care Center’s Experience
Diagnostics, 2020 Background: We aimed to identify diagnosed cases of ocular cystinosis and describe clinical, epidemiological and therapeutic characteristics. Methods: This is a descriptive and retrospective case series. All patients underwent a full check-up examination
Malgorzata Kowalczyk +5 more
doaj +1 more source
Combined liver-kidney transplantation: Analysis of patients with preformed lymphocytotoxic antibody [PDF]
, 1988 In this report, we address combined liver-kidney transplantation, with particular attention to the apparent phenomenon of protection of kidney allografts to antibody mediated destruction by liver allografts.
Duquesnoy, R +8 more
core
Journal of Inherited Metabolic Disease, Volume 48, Issue 3, May 2025.ABSTRACT This paper reviews biomarkers in lysosomal disease according to their categories and definitions. There are numerous biomarkers in lysosomal diseases. Some are disease or organ‐specific, but most are not. Organ‐specific biomarkers are especially useful, but most biomarkers help with diagnosis, assessing disease severity, prognosis, and ...
Raphael Schiffmann
wiley +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 +7 more
core +4 more sources
Aging Cell, Volume 24, Issue 5, May 2025.Tgm2 is highly expressed in senescent microglia. The Tgm2‐NF‐κB‐SASP loop facilitates senescence in microglia. Tgm2‐catalyzed covalent crosslinking of IκBα at K22 and Q248 in the cytoplasm of senescent microglia leads to a reduction in IκBα levels and NF‐κB nuclear translocation.
Zhiqiang Li +12 more
wiley +1 more source
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 +12 more
doaj +1 more source
Negative modulation of the GABAAρ1 receptor function by l-cysteine [PDF]
, 2017 l-Cysteine is an endogenous sulfur-containing amino acid with multiple and varied roles in the central nervous system, including neuroprotection and the maintenance of the redox balance.
Beltrán González, Andrea Natalia +2 more
core +1 more source
Kidney Fibrosis In Vitro and In Vivo Models: Path Toward Physiologically Relevant Humanized Models
Advanced Healthcare Materials, Volume 14, Issue 9, April 4, 2025.This review discusses kidney diseases with a focus on kidney fibrosis and the models currently used. It highlights the limitations of animal and 2D in vitro models in replicating human kidney anatomy and physiology. Consequently, there is a significant need for humanized 3D in vitro models, such as 3D cell aggregates, membranes and hydrogels, on‐chip ...
Gabriele Addario +2 more
wiley +1 more source
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 +2 more
doaj +1 more source