User profiles for Elena Levtchenko
Elena LevtchenkoFull Professor, University of Amsterdam Verified email at amsterdamumc.nl Cited by 10873 |
[HTML][HTML] Gitelman syndrome
NVAM Knoers, EN Levtchenko - Orphanet journal of rare diseases, 2008 - Springer
Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is
characterized by hypokalemic metabolic alkalosis in combination with significant …
characterized by hypokalemic metabolic alkalosis in combination with significant …
[HTML][HTML] Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia
X-linked hypophosphataemia (XLH) is the most common cause of inherited phosphate wasting
and is associated with severe complications such as rickets, lower limb deformities, pain, …
and is associated with severe complications such as rickets, lower limb deformities, pain, …
Connective tissue growth factor (CTGF) from basics to clinics
…, FO Arcolino, L van den Heuvel, E Levtchenko… - Matrix Biology, 2018 - Elsevier
Connective tissue growth factor, also known as CCN2, is a cysteine-rich matricellular protein
involved in the control of biological processes, such as cell proliferation, differentiation, …
involved in the control of biological processes, such as cell proliferation, differentiation, …
[HTML][HTML] Cystinosis: a review
…, LP Van Den Heuvel, E Levtchenko - Orphanet journal of rare …, 2016 - Springer
Cystinosis is the most common hereditary cause of renal Fanconi syndrome in children. It is
an autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene …
an autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene …
[HTML][HTML] Novel conditionally immortalized human proximal tubule cell line expressing functional influx and efflux transporters
…, LP Van Den Heuvel, EN Levtchenko - Cell and tissue …, 2010 - Springer
Reabsorption of filtered solutes from the glomerular filtrate and excretion of waste products
and xenobiotics are the main functions of the renal proximal tubular (PT) epithelium. A human …
and xenobiotics are the main functions of the renal proximal tubular (PT) epithelium. A human …
Autosomal-recessive mutations in SLC34A1 encoding sodium-phosphate cotransporter 2A cause idiopathic infantile hypercalcemia
…, R Kleta, B Dekel, E Levtchenko… - Journal of the …, 2016 - journals.lww.com
Idiopathic infantile hypercalcemia (IIH) is characterized by severe hypercalcemia with failure
to thrive, vomiting, dehydration, and nephrocalcinosis. Recently, mutations in the vitamin D …
to thrive, vomiting, dehydration, and nephrocalcinosis. Recently, mutations in the vitamin D …
Cysteamine: an old drug with new potential
…, R Masereeuw, L Van Den Heuvel, E Levtchenko - Drug Discovery …, 2013 - Elsevier
Cysteamine is an amino thiol with the chemical formula HSCH 2 CH 2 NH 2 . Endogenously,
cysteamine is derived from coenzyme A degradation, although its plasma concentrations …
cysteamine is derived from coenzyme A degradation, although its plasma concentrations …
Nephropathic cystinosis: an international consensus document
…, W Van't Hoff, W Gahl, E Levtchenko - Nephrology Dialysis …, 2014 - academic.oup.com
Cystinosis is caused by mutations in the CTNS gene (17p13.2), which encodes for a lysosomal
cystine/proton symporter termed cystinosin. It is the most common cause of inherited …
cystine/proton symporter termed cystinosin. It is the most common cause of inherited …
OCRL controls trafficking through early endosomes via PtdIns4,5P2‐dependent regulation of endosomal actin
…, M Santoro, G Di Tullio, A Godi, E Levtchenko… - The EMBO …, 2011 - embopress.org
Mutations in the phosphatidylinositol 4,5‐bisphosphate (PtdIns4,5P 2 ) 5‐phosphatase OCRL
cause Lowe syndrome, which is characterised by congenital cataracts, central hypotonia, …
cause Lowe syndrome, which is characterised by congenital cataracts, central hypotonia, …
[HTML][HTML] FGF23 and its role in X-linked hypophosphatemia-related morbidity
…, Z Mughal, D Haffner, O Nilsson, E Levtchenko… - Orphanet Journal of …, 2019 - Springer
Background X-linked hypophosphatemia (XLH) is an inherited disease of phosphate metabolism
in which inactivating mutations of the Phosphate Regulating Endopeptidase Homolog, …
in which inactivating mutations of the Phosphate Regulating Endopeptidase Homolog, …