Results 121 to 130 of about 1,950 (208)

Atypical manifestations of infantile-onset nephropathic cystinosis: a diagnostic challenge. [PDF]

CEN Case Rep, 2022
Deepthi B, Krishnamurthy S, Karunakar P, Barathidasan G, Rajavelu TN.   +4 more
europepmc   +1 more source

Nephropathic Cystinosis [PDF]

, 2020
openaire   +1 more source

An unexpected problem in the clinical assessment of cystinosis [PDF]

, 2012
Kathy L. Powell, Craig B. Langman
core   +1 more source

Muscle and Bone Impairment in Infantile Nephropathic Cystinosis: New Concepts. [PDF]

Cells, 2022
Haffner D, Leifheit-Nestler M, Alioli C, Bacchetta J.   +3 more
europepmc   +1 more source

Patients With Infantile Nephropathic Cystinosis in Germany and Austria: A Retrospective Cohort Study. [PDF]

Front Med (Lausanne), 2022
O'Connell N, Oh J, Arbeiter K, Büscher A, Haffner D, Kaufeld J, Kurschat C, Mache C, Müller D, Patzer L, Weber LT, Tönshoff B, Weitz M, Hohenfellner K, Pape L.   +14 more
europepmc   +1 more source

Benefits and Toxicity of Disulfiram in Preclinical Models of Nephropathic Cystinosis. [PDF]

Cells, 2021
Taranta A, Elmonem MA, Bellomo F, De Leo E, Boenzi S, Janssen MJ, Jamalpoor A, Cairoli S, Pastore A, De Stefanis C, Colucci M, Rega LR, Giovannoni I, Francalanci P, van den Heuvel LP, Dionisi-Vici C, Goffredo BM, Masereeuw R, Levtchenko E, Emma F.   +19 more
europepmc   +1 more source

Testicular function in males with infantile nephropathic cystinosis. [PDF]

Hum Reprod, 2021
Rohayem J, Haffner D, Cremers JF, Huss S, Wistuba J, Weitzel D, Kliesch S, Hohenfellner K.   +7 more
europepmc   +1 more source

Nephropathic infantile cystinosis [PDF]

, 2020
openaire   +1 more source

Neuroretinal structure changes in infantile nephropathic cystinosis. [PDF]

Orphanet J Rare Dis
Keidel LF, Jurkute N, Schworm B, Hohenfellner K, Priglinger S, Petzold A, Priglinger C.   +6 more
europepmc   +1 more source

Relationship between age at initiation of cysteamine treatment, adherence with therapy, and glomerular kidney function in infantile nephropathic cystinosis. [PDF]

Mol Genet Metab, 2022
Nießl C, Boulesteix AL, Oh J, Palm K, Schlingmann P, Wygoda S, Haffner D, Wühl E, Tönshoff B, Buescher A, Billing H, Hoppe B, Zirngibl M, Kettwig M, Moeller K, Acham-Roschitz B, Arbeiter K, Bald M, Benz M, Galiano M, John-Kroegel U, Klaus G, Marx-Berger D, Moser K, Mueller D, Patzer L, Pohl M, Seitz B, Treikauskas U, von Vigier RO, Gahl WA, Hohenfellner K.   +31 more
europepmc   +1 more source