Results 171 to 180 of about 6,358 (193)

Advances in Diagnosis and Treatment of Inherited Kidney Diseases in Children. [PDF]

Kidney Dis (Basel)
Wang G, Liao M, Tan DJ, Chen X, Chao R, Zhu Y, Li P, Guan Y, Mao J, Hu L.   +9 more
europepmc   +1 more source

Addressing the psychosocial aspects of transition to adult care in patients with cystinosis. [PDF]

Pediatr Nephrol
Stabouli S, Sommer A, Kraft S, Schweer K, Bethe D, Bertholet-Thomas A, Batte S, Ariceta G, Brengmann S, Bacchetta J, Emma F, Levtchenko E, Topaloglu R, Willem L, Haffner D, Oh J.   +15 more
europepmc   +1 more source

Pediatric to Adult Nephrology Transition in CKD. [PDF]

Kidney360
Shi V, Jang A, Copp H, Ku E.
europepmc   +1 more source

Molecular analysis of the CTNS gene in Jordanian families with nephropathic cystinosis

, 2015
Saied A. Jaradat, Bothina Al-Rababah, Issa Hazza, Kamal Akl, Edward Saca, Doaa Al-Younis   +5 more
openalex   +1 more source

Residual Cystine Transport Activity for Specific Infantile and Juvenile CTNS Mutations in a PTEC-Based Addback Model. [PDF]

Cells
Medaer L, David D, Smits M, Levtchenko E, Sampaolesi M, Gijsbers R.   +5 more
europepmc   +1 more source

Development and Evaluation of Different Electrospun Cysteamine-Loaded Nanofibrous Webs: A Promising Option for Treating a Rare Lysosomal Storage Disorder. [PDF]

Pharmaceutics
Omer S, Nagy N, Pinke B, Mészáros L, Kazsoki A, Zelkó R.   +5 more
europepmc   +1 more source

The Clinical Manifestations and Disease Burden of Cystinosis in Saudi Arabia: A Single-Tertiary Center Experience. [PDF]

Cureus
Algasem R, Zainy N, Alsabban E, Almojalli H, Raza S, Ali T, Broering D, Rubaya N, Aleid H.   +8 more
europepmc   +1 more source

CTNS Mutations Causing Autosomal Recessive Cystinosis in a Subset of Iranian Population: Report of Two New Variants. [PDF]

Adv Biomed Res
Mohammadi Chermahini Z, Salehi M, Gheissari A, Ahmadi Beni F, Khosravian F, Kazemi M.   +5 more
europepmc   +1 more source

The pro-fibrotic role of autophagy in renal intrinsic cells: mechanisms and therapeutic potential in chronic kidney disease. [PDF]

Front Cell Dev Biol
Zhang YY, Zhou XT, Huang GZ, Liao WJ, Chen X, Ma YR.   +5 more
europepmc   +1 more source

Patients with rare diseases are responsible for the majority of hospitalizations in a Brazilian tertiary pediatric hospital: Preliminary data. [PDF]

Clinics (Sao Paulo)
Grassiotto C, Pavani S, Cavalcanti NV, Gonçalves A, Watanabe A, Odone-Filho V, Tannuri ACA, Silva CAA, Carneiro-Sampaio M.   +8 more
europepmc   +1 more source