scholarly journals SLC4A4 compound heterozygous mutations in exon–intron boundary regions presenting with severe proximal renal tubular acidosis and extrarenal symptoms coexisting with Turner’s syndrome: a case report

2018 ◽  
Vol 19 (1) ◽  
Author(s):  
Shoko Horita ◽  
Enver Simsek ◽  
Tulay Simsek ◽  
Nilgun Yildirim ◽  
Hiroyuki Ishiura ◽  
...  
Keyword(s):  
Case Report ◽  
Renal Tubular Acidosis ◽  
Compound Heterozygous ◽  
Turner's Syndrome ◽  
Turner’S Syndrome ◽  
Intron Boundary ◽  
Proximal Renal Tubular Acidosis ◽  
Compound Heterozygous Mutations ◽  
Renal Tubular

scholarly journals A novel mutant Na+/HCO3−cotransporter NBCe1 in a case of compound-heterozygous inheritance of proximal renal tubular acidosis

2016 ◽  
Vol 594 (21) ◽  
pp. 6267-6286 ◽  
Author(s):  
Evan J. Myers ◽  
Lu Yuan ◽  
Melanie A. Felmlee ◽  
Yuan-Yuan Lin ◽  
Yan Jiang ◽  
...  
Keyword(s):  
Renal Tubular Acidosis ◽  
Compound Heterozygous ◽  
Proximal Renal Tubular Acidosis ◽  
Renal Tubular

Proximal Renal Tubular Acidosis (Fanconi Syndrome) Induced by Apremilast: A Case Report

2017 ◽  
Vol 70 (5) ◽  
pp. 729-731 ◽  
Author(s):  
Dana Perrone ◽  
Faraz Afridi ◽  
Kelli King-Morris ◽  
Ashwini Komarla ◽  
Pran Kar
Keyword(s):  
Case Report ◽  
Renal Tubular Acidosis ◽  
Fanconi Syndrome ◽  
Proximal Renal Tubular Acidosis ◽  
Renal Tubular

Severe Irreversible Proximal Renal Tubular Acidosis and Azotaemia Secondary to Cidofovir

Nephron ◽  
2000 ◽  
Vol 86 (3) ◽  
pp. 348-349 ◽  
Author(s):  
Troy D. Kay ◽  
Patrick G. Hogan ◽  
Susan E. McLeod ◽  
David W. Johnson
Keyword(s):  
Renal Tubular Acidosis ◽  
Proximal Renal Tubular Acidosis ◽  
Renal Tubular

scholarly journals Compound heterozygous mutations in the neuraminidase 1 gene in type 1 sialidosis: A case report and review of literature

2021 ◽  
Vol 9 (3) ◽  
pp. 623-631
Author(s):  
Lan-Xiao Cao ◽  
Ying Liu ◽  
Zhao-Jun Song ◽  
Bao-Rong Zhang ◽  
Wen-Ying Long ◽  
...  
Keyword(s):  
Case Report ◽  
Compound Heterozygous ◽  
Review Of Literature ◽  
Compound Heterozygous Mutations

Proximal Renal Tubular Acidosis

2009 ◽  
pp. 1738-1738
Author(s):  
Markus Braun-Falco ◽  
Henry J. Mankin ◽  
Sharon L. Wenger ◽  
Markus Braun-Falco ◽  
Stephan DiSean Kendall ◽  
...  
Keyword(s):  
Renal Tubular Acidosis ◽  
Proximal Renal Tubular Acidosis ◽  
Renal Tubular

Can the de Lange Syndrome Always Be Diagnosed at Birth?

PEDIATRICS ◽  
1970 ◽  
Vol 46 (6) ◽  
pp. 940-942
Author(s):  
H. Pashayan ◽  
E. P. Levy ◽  
F. C. Fraser
Keyword(s):  
Case Report ◽  
Turner's Syndrome ◽  
Turner’S Syndrome ◽  
The Third ◽  
Typical Appearance ◽  
Caucasian Female

The comment "... The children are diagnosable at birth. This resemblance to one another is as striking to us as the resemblance of mongols to each other"1 holds true for most, but not all cases of the de Lange syndrome.2,3 This paper will describe a patient who at the age of 9 months had features suggestive of Turner's syndrome, and at the age of 21 months had the typical appearance of the de Lange syndrome. Case Report The patient, a Caucasian female, was the third child of unrelated parents who were 28 and 30 years old respectively when she was born January 29, 1968.

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