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Therapeutic Advances in Chronic Disease
|
September 9, 2022
Post-authorisation safety study of burosumab use in paediatric, adolescent and adult patients with X-linked hypophosphataemia: rationale and description
Maria Luisa Brandi, Gema Ariceta, Signe Sparre Beck-Nielsen, et al.
Kidney International
|
September 12, 2020
Cystinuria: clinical practice recommendation
Aude Servais, Kay Thomas, Luca Dello Strologo, et al.
Orphanet Journal of Rare Diseases
|
November 20, 2014
Clinical utility of chitotriosidase enzyme activity in nephropathic cystinosis
Mohamed A Elmonem, Samuel H Makar, Lambertus van den Heuvel, et al.
Journal of Inherited Metabolic Disease
|
September 8, 2021
Human and animal fertility studies in cystinosis reveal signs of obstructive azoospermia, an altered blood-testis barrier and a subtherapeutic effect of cysteamine in testis
Ahmed Reda, Koenraad Veys, Prashant Kadam, et al.
Therapeutic Advances in Chronic Disease
|
May 20, 2024
Real-world non-interventional post-authorization safety study of long-term use of burosumab in children and adolescents with X-linked hypophosphatemia: first interim analysis
Annemieke M Boot, Gema Ariceta, Signe Sparre Beck-Nielsen, et al.
Nature Cell Biology
|
July 12, 2016
Autophagosome-lysosome fusion triggers a lysosomal response mediated by TLR9 and controlled by OCRL
Maria Giovanna De Leo, Leopoldo Staiano, Mariella Vicinanza, et al.
Orphanet Journal of Rare Diseases
|
September 26, 2023
The International X-Linked Hypophosphatemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical data
Gema Ariceta, Signe Sparre Beck-Nielsen, Annemieke M Boot, et al.
Cells
|
December 24, 2021
Benefits and Toxicity of Disulfiram in Preclinical Models of Nephropathic Cystinosis
Anna Taranta, Mohamed A Elmonem, Francesco Bellomo, et al.
Clinical Kidney Journal
|
July 24, 2020
The ANTENATAL multicentre study to predict postnatal renal outcome in fetuses with posterior urethral valves: objectives and design
Bénédicte Buffin-Meyer, Julie Klein, Loes F M van der Zanden, et al.
Molecular Genetics and Metabolism
|
October 2, 2020
The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective
Mohamed A Elmonem, Amaya Belanger-Quintana, Andrea Bordugo, et al.
Page
of 19
Search research articles
Search
Showing results (151-160 of 182) with videos related to
Sort By:
Page
of 19
Therapeutic Advances in Chronic Disease
|
September 9, 2022
Post-authorisation safety study of burosumab use in paediatric, adolescent and adult patients with X-linked hypophosphataemia: rationale and description
Maria Luisa Brandi, Gema Ariceta, Signe Sparre Beck-Nielsen, et al.
Kidney International
|
September 12, 2020
Cystinuria: clinical practice recommendation
Aude Servais, Kay Thomas, Luca Dello Strologo, et al.
Orphanet Journal of Rare Diseases
|
November 20, 2014
Clinical utility of chitotriosidase enzyme activity in nephropathic cystinosis
Mohamed A Elmonem, Samuel H Makar, Lambertus van den Heuvel, et al.
Journal of Inherited Metabolic Disease
|
September 8, 2021
Human and animal fertility studies in cystinosis reveal signs of obstructive azoospermia, an altered blood-testis barrier and a subtherapeutic effect of cysteamine in testis
Ahmed Reda, Koenraad Veys, Prashant Kadam, et al.
Therapeutic Advances in Chronic Disease
|
May 20, 2024
Real-world non-interventional post-authorization safety study of long-term use of burosumab in children and adolescents with X-linked hypophosphatemia: first interim analysis
Annemieke M Boot, Gema Ariceta, Signe Sparre Beck-Nielsen, et al.
Nature Cell Biology
|
July 12, 2016
Autophagosome-lysosome fusion triggers a lysosomal response mediated by TLR9 and controlled by OCRL
Maria Giovanna De Leo, Leopoldo Staiano, Mariella Vicinanza, et al.
Orphanet Journal of Rare Diseases
|
September 26, 2023
The International X-Linked Hypophosphatemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical data
Gema Ariceta, Signe Sparre Beck-Nielsen, Annemieke M Boot, et al.
Cells
|
December 24, 2021
Benefits and Toxicity of Disulfiram in Preclinical Models of Nephropathic Cystinosis
Anna Taranta, Mohamed A Elmonem, Francesco Bellomo, et al.
Clinical Kidney Journal
|
July 24, 2020
The ANTENATAL multicentre study to predict postnatal renal outcome in fetuses with posterior urethral valves: objectives and design
Bénédicte Buffin-Meyer, Julie Klein, Loes F M van der Zanden, et al.
Molecular Genetics and Metabolism
|
October 2, 2020
The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective
Mohamed A Elmonem, Amaya Belanger-Quintana, Andrea Bordugo, et al.
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of 19