Siblings with renal tubular acidosis and nerve deafness. The first family in Japan

[1]  E. Beutler.  Selectivity of proteases as a basis for tissue distribution of enzymes in hereditary deficiencies. , 1983, Proceedings of the National Academy of Sciences of the United States of America.

[2]  D. Hewett‐Emmett,et al.  Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification. , 1983, Proceedings of the National Academy of Sciences of the United States of America.

[3]  J. C. Chan.  Renal tubular acidosis. , 1983, The Journal of pediatrics.

[4]  R. Ferrell,et al.  Effect of Metabolic Acidosis on Hydrogen Ion Excretion in a Pigtail Macaque with Erythrocyte Carbonic Anhydrase I Deficiency 1 , 1981, Proceedings of the Society for Experimental Biology and Medicine. Society for Experimental Biology and Medicine.

[5]  D. Dunger,et al.  Renal tubular acidosis and nerve deafness. , 1980, Archives of Disease in Childhood.

[6]  R. Tashian,et al.  Inherited variants of human red cell carbonic anhydrases. , 1980, Hemoglobin.

[7]  I. Zamora,et al.  THE ACIDIFICATION DEFECT IN THE SYNDROME OF RENAL TUBULAR ACIDOSIS WITH NERVE DEAFNESS , 1979, Acta paediatrica Scandinavica.

[8]  N. Taniguchi,et al.  Inactive form of erythrocyte carbonic anhydrase B in patients with primary renal tubular acidosis. , 1978, The Journal of clinical investigation.

[9]  G. Koorevaar,et al.  THE SYNDROME OF RENAL TUBULAR ACIDOSIS WITH NERVE DEAFNESS , 1976, Acta Paediatrica Scandinavica.

[10]  W. G. Walker,et al.  Syndrome of perceptive deafness and renal tubular acidosis , 1974 .

[11]  E. Shapira,et al.  Enzymatically inactive red cell carbonic anhydrase B in a family with renal tubular acidosis. , 1974, The Journal of clinical investigation.

[12]  T. Cohen,et al.  Familial infantile renal tubular acidosis and congenital nerve deaf ness: An autosomal recessive syndrome , 1973, Clinical genetics.

[13]  N. Shida,et al.  Renal acid excretion in patients with hypogammaglobulinemia , 1972 .

[14]  W. Nance,et al.  Evidence for autosomal recessive inheritance of the syndrome of renal tubular acidosis with deafness. , 1971, Birth defects original article series.

[15]  M. Sugai,et al.  Oculocerebrorenal syndrome in a child with a normal urinary acidification and a defect in bicarbonate reabsorption. , 1969, American journal of diseases of children.

[16]  N. Shida,et al.  Urinary acidification in children. , 1968, Clinica chimica acta; international journal of clinical chemistry.

[17]  C. Edelmann,et al.  Bicarbonate reabsorption and hydrogen ion excretion in children with renal tubular acidosis. , 1967, The Journal of pediatrics.

[18]  A. Sorsby.  Mendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive, and X-linked Phenotypes , 1967 .

[19]  V. McKusick.  Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes , 1983 .

[20]  A. Gruskin,et al.  Renal bicarbonate reabsorption and hydrogen ion excretion in normal infants. , 1967, The Journal of clinical investigation.

[21]  J. Edsall,et al.  Purification and properties of human erythrocyte carbonic anhydrases. , 1966, The Journal of biological chemistry.

[22]  S. Lindskog.  Purification and properties of bovine erythrocyte carbonic anhydrase. , 1960, Biochimica et biophysica acta.

[23]  O. Wrong,et al.  The excretion of acid in renal disease. , 1959, The Quarterly journal of medicine.

[24]  R. Pitts,et al.  THE RENAL REGULATION OF ACID-BASE BALANCE IN MAN. III. THE REABSORPTION AND EXCRETION OF BICARBONATE. , 1949, The Journal of clinical investigation.

[25]  R. Pitts,et al.  The renal regulation of acid-base balance in man; the reabsorption and excretion of bicarbonate. , 1949, The Journal of clinical investigation.

[26]  N. Anderson,et al.  Electrometric and colorimetric determination of carbonic anhydrase. , 1948, The Anatomical record.