Distal renal tubular acidosis (dRTA) or RTA type I is characterised by reduced H+ hydrogen
ions and ammonium urinary excretion. In children affected by dRTA there is stunted growth …

Mutations in the human gene that encodes the AE1 Cl−/HCO 3− exchanger (SLC4A1) cause
autosomal recessive and dominant forms of distal renal tubular acidosis (dRTA). A mouse …

La acidosis tubular renal distal (ATRD) o ATR tipo I se caracteriza por una disminución en la
excreción urinaria de los hidrogeniones H+ y del amonio. En los niños afectados por ATRD …

Southeast Asian ovalocytosis (SAO) is an autosomal dominant inherited red blood cell
(RBC) membrane disorder caused by the heterozygous deletion of codons 400–408 in …

Southeast Asian Ovalocytosis (SAO), the most common red cell membrane disorder found in
the Far-East and Pacific rim, appears to be innocuous in man since it has been identified …

Objectives: Southeast Asian ovalocytosis (SAO) is an inherited red blood cell (RBC)
membrane disorder, whereas hemoglobinopathies are inherited globin gene disorders. In …

TORREGROSA, José V. et al. Tratamiento eficaz de la arteriolopatía urémica calcificante
con bifosfonatos. Nefrología (Madr.)[online]. 2012, vol. 32, n. 3, pp. 329-334. ISSN 0211 …

Neonatal jaundice is very common in newborn infants. Although it is often a natural and
transitional condition, some infants develop severe hyperbilirubinemia, in which …

Discussion Hereditary SAO is a genetic disorder characterized by the presence of large
number of ovalocytes in the peripheral blood. This disorder is also referred to as hereditary …

Pseudohyperkalaemia is an in vitro phenomenon in which the potassium (K+) concentration
is spuriously elevated in the presence of normal circulating plasma potassium …