Results 121 to 130 of about 7,801 (251)

Non‐invasive measurements of atherosclerosis in adult cystinosis patients

open access: hybrid, 2011
Martine Besouw   +3 more
openalex   +1 more source

First Report of CTNS Mutations in a Chinese Family with Infantile Cystinosis [PDF]

open access: gold, 2015
Yongjia Yang   +10 more
openalex   +1 more source

Does renal GCDH expression contribute to the explanation of the two excretor types in glutaric aciduria type I? [PDF]

open access: yes, 2015
This Master Thesis was carried out at the University of Lausanne and is part of the master's curriculum in the School of Medicine(1). All manipulations have been done at the laboratory of the "Centre des Maladies Moléculaires" (CMM) which is part of the "
PARATA, G.
core  

Infantile Cystinosis

open access: yesArchives of Pathology & Laboratory Medicine, 2005
Dinesh, Rakheja   +2 more
openaire   +2 more sources

The boy with massive glucosuria [PDF]

open access: yes, 2016
HBC 2201 INTERMEDIATE ACCOUNTING 1 SUPP ...
Sarkissian, Ashot   +4 more
core  

Case report: infantile cystinosis [PDF]

open access: gold
Thaís Sena Mombach Barreto   +2 more
openalex   +1 more source

CTNS mRNA as a potential treatment for nephropathic cystinosis [PDF]

open access: green, 2023
Tjessa Bondue   +14 more
openalex   +1 more source

A patient with cystinosis presenting transient features of Bartter syndrome

open access: yesThe Turkish Journal of Pediatrics, 2006
A 16-month-old boy was admitted to the clinic because of vomiting and growth failure. His weight and height measurements were under the fifth percentile. He had fair hair and skin, enlarged wrists and rachitic rosaries.
Bilal Yildiz   +5 more
doaj  

Recent Research in Ocular Cystinosis: Drug Delivery Systems, Cysteamine Detection Methods and Future Perspectives [PDF]

open access: gold, 2020
Ana Castro‐Balado   +12 more
openalex   +1 more source

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