Literature DB >> 5680908

Hereditary renal disease with neurosensory hearing loss, prolinuria and ichthyosis.

R A Goyer, J Reynolds, J Burke, P Burkholder.   

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Year:  1968        PMID： 5680908     DOI： 10.1097/00000441-196809000-00005

Source DB:  PubMed          Journal:  Am J Med Sci        ISSN： 0002-9629            Impact factor:   2.378


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  6 in total

Review 1.  Inherited epithelial transporter disorders--an overview.

Authors:  M J Bergeron; A Simonin; M Bürzle; M A Hediger
Journal:  J Inherit Metab Dis       Date:  2008-04-14       Impact factor: 4.982

2.  Hyperprolinaemia type I and white matter disease: coincidence or causal relationship?

Authors:  M Steinlin; E Boltshauser; B Steinmann; W Wichmann; G Niemeyer
Journal:  Eur J Pediatr       Date:  1989-10       Impact factor: 3.183

3.  End-stage renal failure in a child with X-linked ichthyosis.

Authors:  Hiro Matsukura; Tatsuya Fuchizawa; Akio Ohtsuki; Hiroyuki Higashiyama; Osamu Higuchi; Akira Higuchi; Toshio Miyawaki
Journal:  Pediatr Nephrol       Date:  2003-02-07       Impact factor: 3.714

Review 4.  Epstein's syndrome: case report and survey of the literature.

Authors:  G R Standen; J Saunders; J Michael; A L Bloom
Journal:  Postgrad Med J       Date:  1987-07       Impact factor: 2.401

5.  Hereditary nephropathy with hematuria (Alport's syndrome).

Authors:  A Chiricosta; S L Jindal; J Metuzals; B Koch
Journal:  Can Med Assoc J       Date:  1970-02-28       Impact factor: 8.262

6.  Novel POU3F4 variants identified in patients with inner ear malformations exhibit aberrant cellular distribution and lack of SLC6A20 transcriptional upregulation.

Authors:  Emanuele Bernardinelli; Sebastian Roesch; Edi Simoni; Angela Marino; Gerd Rasp; Laura Astolfi; Antonio Sarikas; Silvia Dossena
Journal:  Front Mol Neurosci       Date:  2022-09-29       Impact factor: 6.261
  6 in total

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