Výsledky vyhledávání - "Nicholas D. Barnes"

A common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1

Autor: Pat Kendall-Taylor, Helen Imrie, Nicholas Shaw, Gareth Williams, Karim Meeran, David H. Carr, Nicholas D. Barnes, Rudolf W. Bilous, Simon H. S. Pearce, Anthony Toft, Colin S. Smith, Tim Cheetham, Bijayeswar Vaidya

Publikováno v: American journal of human genetics. 63(6)

SummaryAutoimmune polyendocrinopathy type 1 (APS1) is an autosomal recessive disorder characterized by autoimmune hypoparathyroidism, autoimmune adrenocortical failure, and mucocutaneous candidiasis. Recently, an autoimmune regulator gene (AIRE-1), w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::724855107be2197c4c84afa10b0b9d91
https://pubmed.ncbi.nlm.nih.gov/9837820

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SALT WASTING NEPHROPATHY OR 'PSEUDOHYPOALDOSTERONISM' IN TWINS

Autor: Marcos N. Alvarez, Nicholas D Barnes, Gunnar B. Stickler

Publikováno v: Pediatric Research. 8:453-453

At 1 month of age, dizygotic twins presented with failure to thrive, hyponatremic dehydration, and hyperkalemia. Renal function and glucocorticoid production were normal. Routine fluid and electrolyte replacement failed to correct the dehydration, an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::80cc4368a3bcf95661f8dcccf26730cb
https://doi.org/10.1203/00006450-197404000-00678

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