Cargando…

Testicular function in males with infantile nephropathic cystinosis

STUDY QUESTION: Do males with the rare lysosomal storage disease infantile nephropathic cystinosis (INC) have a chance of biological fatherhood? SUMMARY ANSWER: Cryostorage of semen could be an option for approximately 20% of young males with INC, with surgical sperm retrieval from the centre of the...

Descripción completa

Detalles Bibliográficos
Autores principales:	Rohayem, J, Haffner, D, Cremers, J F, Huss, S, Wistuba, J, Weitzel, D, Kliesch, S, Hohenfellner, K
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2021
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8058591/ https://www.ncbi.nlm.nih.gov/pubmed/33822926 http://dx.doi.org/10.1093/humrep/deab030

Ejemplares similares

Muscle and Bone Impairment in Infantile Nephropathic Cystinosis: New Concepts
por: Haffner, Dieter, et al.
Publicado: (2022)

Hirschsprung's disease with infantile nephropathic cystinosis
por: Mittal, Deepak, et al.
Publicado: (2015)

Patients With Infantile Nephropathic Cystinosis in Germany and Austria: A Retrospective Cohort Study
por: O'Connell, Nina, et al.
Publicado: (2022)

Muscle wasting and adipose tissue browning in infantile nephropathic cystinosis
por: Cheung, Wai W., et al.
Publicado: (2015)

Chest configuration in children and adolescents with infantile nephropathic cystinosis compared with other chronic kidney disease entities and its clinical determinants
por: Müller, Sophia, et al.
Publicado: (2023)

Improving the prognosis of nephropathic cystinosis
por: Besouw, Martine TP, et al.
Publicado: (2014)

Spectral domain optical coherence tomography-based retinochoroidal cystine crystal score: a window into infantile nephropathic cystinosis
por: Keidel, Leonie, et al.
Publicado: (2023)

Analysis of CTNS gene transcripts in nephropathic cystinosis
por: Taranta, Anna, et al.
Publicado: (2010)

Targeting interleukin‐1 for reversing fat browning and muscle wasting in infantile nephropathic cystinosis
por: Cheung, Wai W., et al.
Publicado: (2021)

Atypical onset of nephropathic infantile cystinosis in a Russian patient with rare CTNS mutation
por: Anastasiya, Kozina A., et al.
Publicado: (2018)

In Vitro and In Vivo Models to Study Nephropathic Cystinosis
por: Cheung, Pang Yuk, et al.
Publicado: (2021)

Genetic Landscape of Nephropathic Cystinosis in Russian Children
por: Savostyanov, K. V., et al.
Publicado: (2022)

Biomarkers in Nephropathic Cystinosis: Current and Future Perspectives
por: Emma, Francesco, et al.
Publicado: (2022)

Pregnancy and Breastfeeding in Nephropathic Cystinosis With Native Kidneys
por: Chan, Lillian, et al.
Publicado: (2022)

Neurological impairment in nephropathic cystinosis: motor coordination deficits
por: Trauner, Doris A., et al.
Publicado: (2010)

Clinical utility of chitotriosidase enzyme activity in nephropathic cystinosis
por: Elmonem, Mohamed A, et al.
Publicado: (2014)

Benefits and Toxicity of Disulfiram in Preclinical Models of Nephropathic Cystinosis
por: Taranta, Anna, et al.
Publicado: (2021)

Vitamin D repletion ameliorates adipose tissue browning and muscle wasting in infantile nephropathic cystinosis‐associated cachexia
por: Cheung, Wai W., et al.
Publicado: (2019)

Population pharmacokinetics and pharmacodynamics of cysteamine in nephropathic cystinosis patients
por: Bouazza, Naïm, et al.
Publicado: (2011)

Bone Disease in Nephropathic Cystinosis: Beyond Renal Osteodystrophy
por: Machuca-Gayet, Irma, et al.
Publicado: (2020)

Mutation analysis of the CTNS gene in Iranian patients with infantile nephropathic cystinosis: identification of two novel mutations
por: Sadeghipour, Forough, et al.
Publicado: (2017)

Nephropathic Cystinosis: Symptoms, Treatment, and Perspectives of a Systemic Disease
por: Bäumner, Sören, et al.
Publicado: (2018)

Autonomic Nervous System Dysregulation in Monozygous Twins With Nephropathic Cystinosis
por: Brooks, Ellen R., et al.
Publicado: (2018)

Asymmetrical Ocular Manifestations of Nephropathic Cystinosis; A Case Report
por: Helmi, Hala A., et al.
Publicado: (2019)

Mitochondrial Dynamics of Proximal Tubular Epithelial Cells in Nephropathic Cystinosis
por: De Rasmo, Domenico, et al.
Publicado: (2019)

Nephropathic Cystinosis: Pathogenic Roles of Inflammation and Potential for New Therapies
por: Elmonem, Mohamed A., et al.
Publicado: (2022)

A Leptin Receptor Antagonist Attenuates Adipose Tissue Browning and Muscle Wasting in Infantile Nephropathic Cystinosis-Associated Cachexia
por: Gonzalez, Alex, et al.
Publicado: (2021)

Diagnosis of Nephropathic Cystinosis in a Child During Routine Eye Exam
por: Ecel, Mahmut, et al.
Publicado: (2017)

Ventricular noncompaction in a female patient with nephropathic cystinosis: a case report
por: Ahmed, Ibrar, et al.
Publicado: (2009)

Nephropathic cystinosis associated with cardiomyopathy: A 27-year clinical follow-up
por: Dixit, Mehul P, et al.
Publicado: (2002)

Diagnostic challenge in a patient with nephropathic juvenile cystinosis: a case report
por: Higashi, Satomi, et al.
Publicado: (2017)

Posterior segment optical coherence tomography findings in a case of nephropathic cystinosis
por: Al Abdulsalam, Omar
Publicado: (2020)

Long-term clinical benefits of delayed-release cysteamine bitartrate capsules in patients with nephropathic cystinosis (response to “A comparison of immediate release and delayed release cysteamine in 17 patients with nephropathic cystinosis”)
por: Langman, Craig B.
Publicado: (2023)

CTNS mRNA molecular analysis revealed a novel mutation in a child with infantile nephropathic cystinosis: a case report
por: Papizh, Svetlana, et al.
Publicado: (2019)

Multisystem involvement, defective lysosomes and impaired autophagy in a novel rat model of nephropathic cystinosis
por: Krohn, Patrick, et al.
Publicado: (2022)

Genistein improves renal disease in a mouse model of nephropathic cystinosis: a comparison study with cysteamine
por: De Leo, Ester, et al.
Publicado: (2022)

Worldwide view of nephropathic cystinosis: results from a survey from 30 countries
por: Bertholet-Thomas, Aurélia, et al.
Publicado: (2017)

A comparison of immediate release and delayed release cysteamine in 17 patients with nephropathic cystinosis
por: van Stein, Christina, et al.
Publicado: (2021)

Multidisciplinary approach for patients with nephropathic cystinosis: model for care in a rare and chronic renal disease
por: Vaisbich, Maria Helena, et al.
Publicado: (2018)

Response to Cysteamine in Osteoclasts Obtained from Patients with Nephropathic Cystinosis: A Genotype/Phenotype Correlation
por: Quinaux, Thomas, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_jfcrk2salpe96b99umm314d4lu