Results 91 to 100 of about 6,358 (193)
Grip Strength in Adults and Children with Cystinosis
Kidney International Reports, 2021 Introduction: Chronic kidney disease (CKD) is associated with impaired muscle strength. Patients with cystinosis have an increased risk for impaired muscle strength because of early development of CKD and cystinosis-induced myopathy.
Helina Iyob-Tessema +6 more
doaj
Substrate selectivity and inhibition of the human lysyl hydroxylase JMJD7
Protein Science, Volume 33, Issue 10, October 2024.Abstract Jumonji‐C (JmjC) domain‐containing protein 7 (JMJD7) is a human Fe(II) and 2‐oxoglutarate dependent oxygenase that catalyzes stereospecific C3‐hydroxylation of lysyl‐residues in developmentally regulated GTP binding proteins 1 and 2 (DRG1/2). We report studies exploring a diverse set of lysine derivatives incorporated into the DRG1 peptides as
Nurgül Bilgin +8 more
wiley +1 more source
Treatment of corneal cystine crystal accumulation in patients with cystinosis
Clinical Ophthalmology, 2014 Fatemeh Shams, Iain Livingstone, Dilys Oladiwura, Kanna Ramaesh Department of Ophthalmology, Gartnavel General Hospital, Glasgow, Scotland Abstract: Cystinosis is a rare autosomal recessive disorder characterized by the accumulation of cystine within ...
Shams F +3 more
doaj
BMC Nephrology, 2019 Background Cystinosis is an autosomal recessive lysosomal storage disorder characterized by accumulation of cystine in lysosomes throughout the body. Cystinosis is caused by mutations in the CTNS gene that encodes the lysosomal cystine carrier protein ...
Svetlana Papizh +7 more
doaj +1 more source
Cystinosis. A Clinico-pathological Study of Cystinosis in Two Siblings [PDF]
, 1952 R. Brown
openalex +1 more source
The Effect of a Continuous Intravenous Infusion of Inorganic Phosphate on the Rachitic Lesions in Cystinosis [PDF]
, 1961 R Steendijk
openalex +1 more source
Transport of L-Cystine by Cultivated Skin Fibroblasts of Normal Subjects and Patients with Cystinosis [PDF]
, 1976 Celia I. Kaye, Henry L. Nadler
openalex +1 more source
The in Vivo Use of Dithiothreitol in Cystinosis [PDF]
, 1977 Denise Depape-Brigger +4 more
openalex +1 more source
Molecular based newborn screening in Germany: Follow-up for cystinosis
Molecular Genetics and Metabolism Reports, 2019 Background: Newborn screening (NBS) programs for treatable metabolic disorders have been enormously successful, but molecular-based screening has not been broadly implemented so far.
Katharina Hohenfellner +12 more
doaj
LATE-ONSET NEPHROPATHIC CYSTINOSIS WITH MASSIVE PROTEINURIA. A STUDY OF THE RENAL LESIONS AND TUBULAR FUNCTIONS [PDF]
, 1974 Rufino C. Pabico +5 more
openalex +1 more source