Results 71 to 80 of about 5,039 (197)
A Rare Case of Cystinosis Presenting with Alkalosis [PDF]
, 2013 A 14-month-old girl was admitted to our clinic due to failure to thrive. Her weight and height were below the third percentile for age. Laboratory examination showed signs of alkalosis, hypokalemia, and hypochloremia.
Tekin, Mustafa +4 more
core +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2374-2380, October 2026.
Reem Alsulaiman +18 more
wiley +1 more source
Nursing Open, Volume 13, Issue 4, April 2026.ABSTRACT Aim To explore what is known about the intersection of mental health and rare diseases. Design Narrative review with peer‐reviewed literature from 2009 onwards. Methods The study searched for literature on these databases in September 2024: CINAHL, Scopus, Pubmed, Medline, Embase, and PsycInfo, as well as citation chaining and supplementary ...
Eileen Wu, Sophie Isobel, Paul Beckett
wiley +1 more source
Aortic dissection and cystinosis: is there any relationship?
, 2017 Cystinosis is a rare, autosomal-recessive genetic disorder. The kidneys are commonly involved, as there is cystinosin protein malfunction, and nephropathic cystinosis ensues.
Ali Vasheghani-Farahani +2 more
core +1 more source
Organoids for Metabolic Disease Modeling
Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.ABSTRACT Inherited metabolic diseases (IMDs) are a diverse group of rare genetic disorders that disrupt metabolic pathways, leading to severe clinical manifestations. Disease models ranging from complex animal models to simple in vitro systems have provided insights into IMDs, but each has limitations.
Arif Ibrahim Ardisasmita +2 more
wiley +1 more source
Diagnostic challenge in a patient with nephropathic juvenile cystinosis: a case report
BMC Nephrology, 2017 Background Cystinosis is a rare autosomal recessive lysosomal disorder characterized by the accumulation of cystine in lysosomes. Cystinosis is much rarer in Asian than Caucasian populations. There are only 14 patients have with cystinosis alive in Japan.
Satomi Higashi +5 more
doaj +1 more source
Epidemiology of progressive intellectual and neurological deterioration in UK children
Developmental Medicine &Child Neurology, Volume 68, Issue 3, Page 418-428, March 2026.This study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Christopher M. Verity +3 more
wiley +1 more source
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
Case Reports in Nephrology, Volume 2026, Issue 1, 2026.This case report delves into the complex presentation of Fanconi syndrome (FS) associated with tenofovir disoproxil fumarate (TDF) use in a 27‐year‐old male diagnosed with HIV. The patient exhibited severe proximal tubulopathy and osteomalacia, emphasizing the need for vigilant monitoring in individuals on TDF‐based regimens.
Lavender Otom +4 more
wiley +1 more source
Altered mTOR signalling in nephropathic cystinosis
, 2016 Lysosomes play a central role in regulating autophagy via activation of mammalian target of rapamycin complex 1 (mTORC1). We examined mTORC1 signalling in the lysosomal storage disease nephropathic cystinosis (MIM 219800), in which accumulation of ...
Pastore, Anna +8 more
core +1 more source