Results 181 to 190 of about 6,358 (193)

Fibrosing colonopathy associated with cysteamine bitartrate delayed-release capsules in cystinosis patients. [PDF]

Pediatr Nephrol
Kishk OA, Kim I, Cheng C, Summan M, Muñoz MA.   +4 more
europepmc   +1 more source

Fertility Management in Cystinosis: A Clinical Perspective. [PDF]

Kidney Int Rep
Langman CB, Delos Santos RB, Ghossein C, Atherton AM, Levtchenko EN, Servais A.   +5 more
europepmc   +1 more source

Morphological changes and their associations with clinical parameters in children with nephropathic cystinosis and chronic kidney disease prior to kidney replacement therapy over 25 years. [PDF]

Pediatr Nephrol
Brügelmann M, Müller S, Bohlen AV, Hohenfellner K, Büscher A, Kemper MJ, Fröde K, Kanzelmeyer N, Oh J, Billing H, Gellermann J, Müller D, Weber LT, Acham-Roschitz B, Arbeiter K, Tönshoff B, Hagenberg M, Žebec MS, Haffner D, Zivicnjak M.   +19 more
europepmc   +1 more source

Early-onset renal dysfunction in Jeune syndrome: A case report with atypical presentation. [PDF]

Radiol Case Rep
Al-Obaidi AD, Al-Obiade R, Al-Fatlawi N, Al-Badri SG, Al-Musawi M, Hashim HT, Al-Zeena A, Al-Obaidi MN, Hashim AS, Al-Awad A.   +9 more
europepmc   +1 more source

Perspectives on Matrix Metalloproteinase-8 and Salivary Osteoprotegerin in Orthodontic Strategy in Children with Chronic Kidney Disease. [PDF]

J Clin Med
Morozova NS, Elovskaya AA, Maslikova EA, Sevbitov AV, Timoshina MD, Amkhadova MA, Maltseva LD, Velichko EV, Danilova EY, Morozova OL.   +9 more
europepmc   +1 more source

Reading through the nonsense: Gentamicin and ELX-02 as rescuing therapies for epidermolysis bullosa. [PDF]

Mol Ther Nucleic Acids
Anderson-Crannage M, Cairo MS, Liao Y.
europepmc   +1 more source

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Pregnancy in cystinosis patients with chronic kidney disease: A European case series

Journal of Inherited Metabolic Disease, 2022
Cystinosis is a rare autosomal recessive disease leading to end‐stage renal disease within the second or third decade of life. Since the era of specific treatment with cysteamine, prognosis has substantially improved and pregnancy becomes an increasing ...
A. Servais, M. Janssen, H. Blakey, M. Greco, S. Lemoine, P. Martín-Moreno, D. Game, E. Levtchenko, G. Lipkin   +8 more
semanticscholar   +1 more source

Longitudinal dysphagia assessment in adult patients with nephropathic cystinosis using the Modified Barium Swallow Impairment Profile

Muscle and Nerve, 2022
Nephropathic cystinosis is a lysosomal storage disorder with known myopathic features, including dysphagia. Evaluation of oropharyngeal swallowing physiology can be standardized using the Modified Barium Swallow Impairment Profile (MBSImP), a validated ...
Stacey L. Sullivan, Natalie R Grant, Colleen Hammond, W. David, F. Eichler, R. Sadjadi   +5 more
semanticscholar   +1 more source

Corneal Densitometry to Assess the Corneal Cystine Deposits in Patients With Cystinosis

Cornea, 2022
Purpose: The purpose of this study was to assess the suitability of corneal densitometry measurements obtained with Scheimpflug imaging in estimating the corneal changes caused by cystine deposits in the cornea in patients with cystinosis.
S. Biswas, Khaled Alzahrani, H. Radhakrishnan   +2 more
semanticscholar   +1 more source