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PEDIATRIC NEPHROLOGY, ISSN 0931-041X, 10/2000, Volume 14, Issue 12, pp. 1121 - 1136
Journal Article
Journal of Child Science, ISSN 2474-5871, 01/2017, Volume 7, Issue 1, pp. e127 - e129
Abstract Pseudohypoaldosteronism type 1 (PHA1) is a life-threatening disorder for two reasons, first because it causes severe hyperkalemia and second because... 
Case Report | acute management | pseudohypoaldosteronism type 1 | autosomal recessive | long-term management | hyperkalemia
Journal Article
Journal Article
Journal Article
Physiology, ISSN 1548-9213, 06/2007, Volume 22, Issue 3, pp. 202 - 211
Journal Article
Pediatric Nephrology, ISSN 0931-041X, 3/2013, Volume 28, Issue 3, pp. 387 - 399
Advances in genetic mapping and sequencing techniques have led to substantial progress in the study of rare monogenic (Mendelian) forms of abnormal blood... 
Pediatrics | Essential hypertension | Bartter’s syndrome | Gitelman’s syndrome | Pheochromocytoma | Medicine & Public Health | Liddle’s syndrome | Pseudohypoaldosteronism | Liddle's syndrome | Gitelman's syndrome | Bartter's syndrome | HEREDITARY HYPERTENSION | SENSORINEURAL DEAFNESS | HYPOKALEMIC ALKALOSIS | EPITHELIAL SODIUM-CHANNEL | BARTTERS-SYNDROME | CARDIOVASCULAR-DISEASE RISK | REMEDIABLE ALDOSTERONISM | UROLOGY & NEPHROLOGY | GENETIC-HETEROGENEITY | PEDIATRICS | AUTOSOMAL-DOMINANT HYPERTENSION | GENOME-WIDE ASSOCIATION | Genetic Predisposition to Disease | Prognosis | Blood Pressure - genetics | Humans | Hypotension - therapy | Hypotension - diagnosis | Renal Tubular Transport, Inborn Errors - genetics | Renal Tubular Transport, Inborn Errors - therapy | Hypotension - genetics | Hypertension - physiopathology | Hypertension - metabolism | Kidney - metabolism | Phenotype | Animals | Hypotension - metabolism | Renal Tubular Transport, Inborn Errors - metabolism | Hypotension - physiopathology | Hypertension - genetics | Hypertension - therapy | Renal Tubular Transport, Inborn Errors - diagnosis | Hypertension - diagnosis | Renal Tubular Transport, Inborn Errors - physiopathology | Kidney - physiopathology | Hypertension | Complications and side effects | Evaluation | Molecular genetics | Blood pressure | Research | Kidney diseases | Risk factors
Journal Article
BBA - Molecular Basis of Disease, ISSN 0925-4439, 2011, Volume 1812, Issue 10, pp. 1301 - 1313
Journal Article
Cell and Tissue Research, ISSN 0302-766X, 6/2018, Volume 372, Issue 3, pp. 445 - 456
TMPRSS3 (Trans-membrane Serine Protease 3) is a type II trans-membrane serine protease that has proteolytic activity essential for hearing. Mutations in the... 
Human Genetics | Immunohistochemistry | Human | Trans-membrane Serine Protease 3 (TMPRSS3) | Biomedicine | Proteomics | Cochlea | Molecular Medicine | Super-resolution structured illumination microscopy (SR-SIM) | STRUCTURED ILLUMINATION | HUMAN COCHLEA | ACTIN-FILAMENTS | AUTOSOMAL RECESSIVE DEAFNESS | CELL BIOLOGY | HAIR-CELLS | HEARING-LOSS | FLUORESCENCE MICROSCOPY | MICROTUBULE-ASSOCIATED PROTEINS | EPITHELIAL-CELLS | MONOCLONAL-ANTIBODIES | Organ of Corti - ultrastructure | Humans | Middle Aged | Actins - metabolism | Intercellular Junctions - metabolism | Male | Neoplasm Proteins - metabolism | Microtubules - metabolism | Organ of Corti - enzymology | Organ of Corti - cytology | Microtubules - ultrastructure | Adult | Female | Aged | Membrane Proteins - metabolism | Serine Endopeptidases - metabolism | Intercellular Junctions - ultrastructure | Deafness | Proteolysis | Serine | Physiological aspects | Thrombin | Genetic aspects | Health aspects | Organ of Corti | Therapeutic applications | Hair cells | Outer hair cells | Organelles | Cell surface | Inner ear | Hearing loss | Transmission electron microscopy | Microscopy | Actin | Proteases | Surgery | Cytoskeleton | Ears & hearing | Protein expression | Serine proteinase | Mutation | Meningioma | Regular | Biological Sciences | Naturvetenskap | Biologiska vetenskaper | Natural Sciences | Cellbiologi | Cell Biology
Journal Article
Journal of the Association for Research in Otolaryngology, ISSN 1525-3961, 2011, Volume 12, Issue 6, pp. 753 - 766
Journal Article