Results 51 to 60 of about 7,637 (215)
Pediatric Transplantation, Volume 29, Issue 6, September 2025.Adolescent kidney transplant candidates, not preadolescent candidates, exhibited greater executive functioning difficulties and mental health concerns during the COVID‐19 pandemic compared to adolescent candidates evaluated before the pandemic.
Finola E. Kane‐Grade +5 more
wiley +1 more source
Egyptian Pediatric Association GazetteBackground Cystinosis is an autosomal recessive lysosomal storage disorder caused by cystine crystals accumulation within lysosomes resulting in multi-organ dysfunction.
Rasha Helmy +4 more
doaj +1 more source
Fertility Management in Cystinosis: A Clinical Perspective
Kidney International ReportsCystinosis is a rare, inherited, lysosomal storage disorder characterized by the progressive accumulation of intralysosomal cystine and subsequent organ and tissue damage. The kidneys are the first and most severely impacted organ.
Craig B. Langman +5 more
doaj +1 more source
Glutathione depletion and increased apoptosis rate in human cystinotic proximal tubular cells [PDF]
, 2018 We have determined levels of glutathione (GSH), ATP, mitochondrial complex activity and apoptosis rate in proximal tubular cells (PTCs) exfoliated from urine in cystinotic (n=9) and control (n=9) children.
Haq, Mushfequr +6 more
core
Pressure for drug development in lysosomal storage disorders – a quantitative analysis thirty years beyond the US orphan drug act [PDF]
, 2015 Background: Lysosomal storage disorders are a heterogeneous group of approximately 50 monogenically inherited orphan conditions. A defect leads to the storage of complex molecules in the lysosome, and patients develop a complex multisystemic phenotype of
Hoffmann, Georg Friedrich +3 more
core +1 more source
Macrophages: Subtypes, Distribution, Polarization, Immunomodulatory Functions, and Therapeutics
MedComm, Volume 6, Issue 8, August 2025.Macrophages originate from the yolk sac, fetal liver, and bone marrow, differentiating into two main subtypes: M1‐like (proinflammatory) and M2‐like (anti‐inflammatory). These subtypes exhibit high plasticity, allowing them to transform in response to environmental cues or therapeutic interventions.
Mengyuan Peng +10 more
wiley +1 more source
Dedifferentiation and aberrations of the endolysosomal compartment characterize the early stage of nephropathic cystinosis [PDF]
, 2017 Nephropathic cystinosis, a lysosomal storage disease caused by mutations in the CTNS gene encoding the lysosomal cystine transporter cystinosin, is characterized by generalized proximal tubule (PT) dysfunction that progresses, if untreated, to end-stage ...
Antignac, Corinne +5 more
core
Variations in Arterial Blood Pressure after Kidney Transplantation [PDF]
, 1973 The course of hypertension within the first 2 months after kidney transplantation was correlated with renal function, plasma renin activity (PRA), and the daily maintenance dose of prednisone in 18 homograft recipients.
CORMAN, JACQUES L +7 more
core +1 more source
A Brief History of Inherited Metabolic Diseases: A Personal 60 Years Clinical Flashback
Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.ABSTRACT The concept of IMDs has evolved over a century from rare deficits in amino acid catabolism diagnosed by the accumulation of biochemical markers such as phenylketonuria (PKU) to diseases affecting organelle metabolism, synthesis of complex molecules, and cellular trafficking.
Jean‐Marie Saudubray, Manuel Schiff
wiley +1 more source
Nephropathic Cystinosis : First reported case in Oman
Sultan Qaboos University Medical Journal, 2011 Cystinosis is an autosomal recessive, lysosomal storage disease characterised by the accumulation of the amino acid cystine in different organs and tissues. It is a multisystemic disease that can present with renal and extra renal manifestations.
Dana Al-Nabhani +5 more
doaj