A patient with cystinosis presenting transient features of Bartter syndrome
A 16-month-old boy was admitted to the clinic because of vomiting and growth failure. His weight and height measurements were under the fifth percentile. He had fair hair and skin, enlarged wrists and rachitic rosaries.
Bilal Yildiz+5 more
doaj
Steady‐state pharmacokinetics and pharmacodynamics of cysteamine bitartrate in paediatric nephropathic cystinosis patients [PDF]
Eric B. Belldina+4 more
openalex +1 more source
Culture of renal tubular cells from the urine of patients with nephropathic cystinosis.
Lorraine C. Racusen+3 more
openalex +1 more source
Comparison of Cystine Determination in Mixed Leukocytes vs Polymorphonuclear Leukocytes for Diagnosis of Cystinosis and Monitoring of Cysteamine Therapy [PDF]
Elena Levtchenko+5 more
openalex +1 more source
Bone marrow findings in hereditary cystinosis with renal failure [PDF]
John Quinn, D Royston, Philip Murphy
openalex +1 more source
High cystine in platelets from patients with nephropathic cystinosis: a chemical, ultrastructural, and functional evaluation [PDF]
Lale Olcay+7 more
openalex +1 more source
Major Colonic Problems in Human Homotransplant Recipients [PDF]
Brettschneider, L+4 more
core +1 more source
From Molecular Understanding and Pathophysiology to Disease Management; A Practical Approach and Guidance to the Management of the Ocular Manifestations of Cystinosis. [PDF]
Liang H+4 more
europepmc +1 more source
Renal phenotype of the cystinosis mouse model is dependent upon genetic background [PDF]
Nathalie Névo+7 more
openalex +1 more source
Potential clinical indications for a CCK2 receptor antagonist [PDF]
Boyce, Malcolm+2 more
core +1 more source