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Pseudohypoaldosteronism, Type I

Known as: Pseudohypoaldosteronism Type Is, Type Is, Pseudohypoaldosteronism, Pseudohypoaldosteronism Type I 
Rare autosomal disorder of renal electrolyte transport dysfunctions. The Type I features HYPERKALEMIA with sodium wasting; Type II, HYPERKALEMIA… 
National Institutes of Health

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Pseudohypoaldosteronism

Papers overview

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Review
2015
Review
2015
Regulation of αENaC transcription.
2013
2013
Novel Mutations in the SCNN1A Gene Causing Pseudohypoaldosteronism Type 1
Pseudohypoaldosteronism type 1 (PHA1) is a rare inherited disease characterized by resistance to the actions of aldosterone… 
2012
2012
Unique eyelid manifestations in type 1 pseudohypoaldosteronism
Familial pseudohypoaldosteronism type 1 (PHA1) occurs in two genetically and clinically distinguishable variants. Autosomal… 
2011
2011
Critical Points in the Management of Pseudohypoaldosteronism Type 1
Pseudohypoaldosteronism type 1 (PHA-1, MIM #264350) is caused by defective transepithelial sodium transport. Affected patients… 
2004
2004
Genetic Heterogeneity in Autosomal Dominant Pseudohypoaldosteronism Type I: Exclusion of Claudin-8 as a Candidate Gene
Background/Aims: Pseudohypoaldosteronism type I (PHAI) is an inherited disorder characterized by renal salt wasting, hyperkalemic… 
2002
2002
Novel mutations responsible for autosomal recessive multisystem pseudohypoaldosteronism and sequence variants in epithelial sodium channel alpha-, beta-, and gamma-subunit genes.
Multisystem pseudohypoaldosteronism (PHA), is a syndrome of unresponsiveness to aldosterone with autosomal recessive inheritance… 
2002
2002
Pseudohypoaldosteronism Type 1 and Respiratory Distress Syndrome
We present a patient born at 31 weeks gestation with respiratory distress syndrome (RDS) which did not respond to surfactant. He… 
Review
2000
Review
2000
Disorders of the Epithelial Na+ Channel in Liddle’s Syndrome and Autosomal Recessive Pseudohypoaldosteronism Type 1
The epithelial Na+ channel (ENaC) is the key step in many Na+-absorptive epithelia, such as kidney and distal colon, that… 
Review
2000
Review
2000
Amiloride-sensitive sodium channels contribute to the woes of the flu.
Major discomforts with influenza infections and other types of respiratory infection are runny nose, airway congestion, and… 
Review
1998
Review
1998
Straightening out the renal tubule: advances in the molecular basis of the inherited tubulopathies.
  • S. Pearce
  • QJM : monthly journal of the Association of…
  • 1998
  • Corpus ID: 1699209
Advances in the molecular genetics of inherited renal tubulopathies have allowed some insight into the normal mechanisms of… 
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