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Molecular Genetics and Metabolism, ISSN 1096-7192, 04/2019, Volume 126, Issue 4, pp. 413 - 415
Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the gene. Patients with nephropathic cystinosis suffer... 
Cystinosis | Dysphagia? | Swallowing dysfunction | Nephropathic
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2008, Volume 3, pp. 22-1 - 22-6
Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with... 
Journal Article
Carbohydrate Research, ISSN 0008-6215, 2017, Volume 1, pp. 9 - 15
Journal Article
Plos One, ISSN 1932-6203, 2015, Volume 10, Issue 3, pp. e0120998 - e0120998
Journal Article
PLoS One, ISSN 1932-6203, 2017, Volume 12, Issue 7, pp. e0182100 - e0182100
Pituitary adenylate cyclase-activating polypeptide (PACAP) is an inhibitor of megakaryopoiesis and platelet function. Recently, PACAP deficiency was observed... 
Pituitary Adenylate Cyclase-Activating Polypeptide - genetics | Membrane Proteins - genetics | Zebrafish Proteins - metabolism | Pituitary Adenylate Cyclase-Activating Polypeptide - chemistry | Nephrotic Syndrome - metabolism | Pericardium - drug effects | Peptide Fragments - pharmacology | Zebrafish | Nephrotic Syndrome - genetics | Pericardium - metabolism | Doxorubicin - toxicity | Animals | Pericardium - pathology | Blood Platelets - metabolism | Pituitary Adenylate Cyclase-Activating Polypeptide - metabolism | Ceruloplasmin - metabolism | Membrane Proteins - metabolism | Zebrafish Proteins - genetics | Nephrotic Syndrome - etiology | DOXORUBICIN-INDUCED CARDIOMYOPATHY | PROTEIN | SLIT DIAPHRAGM | NEPHRIN | CLONING | FUNCTIONAL EXPRESSION | MULTIDISCIPLINARY SCIENCES | RECEPTOR | MUTATIONS | IDENTIFICATION | KIDNEY | Care and treatment | Polypeptides | Physiological aspects | Nephrotic syndrome | Genetic aspects | Research | Risk factors | Protein binding | Ceruloplasmin | Pediatrics | Nephrology | Renal function | Adrenal glands | Laboratories | Toxicity | Cardiomyopathy | Transgenic | Nervous system | Neuropeptides | Proteins | Blood platelets | Rodents | Children | Thromboembolism | Systems development | Edema | Kidneys | Thrombocytes | Exposure | Injection | Gene expression | Ribonucleic acid--RNA | Embryos | Thrombosis | Pituitary adenylate cyclase-activating polypeptide | Hospitals | Models | Mutation | Platelets | Proteinuria | Kidney transplantation | Index Medicus | RNA | Ribonucleic acid
Journal Article
Kidney International. Supplement, ISSN 0085-2538, 2016, Volume 89, Issue 6, pp. 1192 - 1203
Journal Article
Cell and Tissue Research, ISSN 0302-766X, 2010, Volume 339, Issue 2, pp. 449 - 457
Journal Article
Kidney International, ISSN 0085-2538, 05/2016, Volume 89, Issue 5, pp. 1037 - 1048
Journal Article
Journal Article
Stem Cells International, ISSN 1687-9678, 2015, Volume 18
Journal Article
Journal Article
Plos One, ISSN 1932-6203, 2012, Volume 7, Issue 8, pp. e42840 - e42840
Journal Article
Cell Calcium, ISSN 0143-4160, 2016, Volume 60, Issue 4, pp. 282 - 287
Journal Article