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Clinical phenotypes in kidney transport disorders.
Birth Defects Orig Artic Ser 1974; 10(4):118-26BD

Abstract

Approximately 20 inherited disorders of kidney transport occurring in man have so far been defined. Most of these diseases have characteristic clinical profiles. They can be divided into four groups: 1) the amino acid transport mutations which include the cystinurias, hyperdibasicaminoaciduria, Joseph syndrome, Hartnup disease, and the methionine malabsorption syndrome: 2) the sugar transport mutations characterized by glucose (renal glucosuria), and glucose-galactose malabsorption; 3) the electrolyte and water transport disorders, among which are familial hypophosphatemic rickets, vitamin D-dependent rickets, pseudohypoparathyroidism, proximal and distal renal tubular acidosis, and nephrogenic diabetes insipidus; and 4) the "mixed" kidney transport mutations such as the "Busby", Fanconi, Lowe, Luder-Sheldon syndromes, and glucoglycinuria.

Authors

No affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

4377865

Citation

Bartsocas, C S., and J D. Crawford. "Clinical Phenotypes in Kidney Transport Disorders." Birth Defects Original Article Series, vol. 10, no. 4, 1974, pp. 118-26.
Bartsocas CS, Crawford JD. Clinical phenotypes in kidney transport disorders. Birth Defects Orig Artic Ser. 1974;10(4):118-26.
Bartsocas, C. S., & Crawford, J. D. (1974). Clinical phenotypes in kidney transport disorders. Birth Defects Original Article Series, 10(4), pp. 118-26.
Bartsocas CS, Crawford JD. Clinical Phenotypes in Kidney Transport Disorders. Birth Defects Orig Artic Ser. 1974;10(4):118-26. PubMed PMID: 4377865.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Clinical phenotypes in kidney transport disorders. AU - Bartsocas,C S, AU - Crawford,J D, PY - 1974/1/1/pubmed PY - 1974/1/1/medline PY - 1974/1/1/entrez SP - 118 EP - 26 JF - Birth defects original article series JO - Birth Defects Orig. Artic. Ser. VL - 10 IS - 4 N2 - Approximately 20 inherited disorders of kidney transport occurring in man have so far been defined. Most of these diseases have characteristic clinical profiles. They can be divided into four groups: 1) the amino acid transport mutations which include the cystinurias, hyperdibasicaminoaciduria, Joseph syndrome, Hartnup disease, and the methionine malabsorption syndrome: 2) the sugar transport mutations characterized by glucose (renal glucosuria), and glucose-galactose malabsorption; 3) the electrolyte and water transport disorders, among which are familial hypophosphatemic rickets, vitamin D-dependent rickets, pseudohypoparathyroidism, proximal and distal renal tubular acidosis, and nephrogenic diabetes insipidus; and 4) the "mixed" kidney transport mutations such as the "Busby", Fanconi, Lowe, Luder-Sheldon syndromes, and glucoglycinuria. SN - 0547-6844 UR - https://www.unboundmedicine.com/medline/citation/4377865/Clinical_phenotypes_in_kidney_transport_disorders L2 - http://www.malacards.org/card/glucoglycinuria DB - PRIME DP - Unbound Medicine ER -