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Items: 1 to 20 of 131

1.

Nephropathic infantile form of cystinosis about one case.

Sfaihi L, Aloulou H, Ben Amor S, Kamoun T, Hachicha M.

Fetal Pediatr Pathol. 2013 Feb;31(1):66-70. doi: 10.3109/15513815.2012.671445. Epub 2012 Apr 12.

PMID:
22497686
2.

A patient with cystinosis presenting transient features of Bartter syndrome.

Yildiz B, Durmuş-Aydoğdu S, Kural N, Bildirici K, Başmak H, Yarar C.

Turk J Pediatr. 2006 Jul-Sep;48(3):260-2.

PMID:
17172073
3.

Cystinosis presenting with findings of Bartter syndrome.

Özkan B, Çayır A, Koşan C, Alp H.

J Clin Res Pediatr Endocrinol. 2011;3(2):101-4. doi: 10.4274/jcrpe.v3i2.21. Epub 2011 Jun 8.

4.

Nephropathic cystinosis in black children. Case reports.

Sochett E, Pettifor JM, Milner L, Thomson PD, Berkowitz F.

S Afr Med J. 1984 Mar 10;65(10):397-8.

PMID:
6701696
5.

Abnormal mitochondrial autophagy in nephropathic cystinosis.

Sansanwal P, Sarwal MM.

Autophagy. 2010 Oct;6(7):971-3. doi: 10.4161/auto.6.7.13099. Epub 2010 Oct 21.

6.

Early-onset chronic renal failure as a presentation of infantile nephropathic cystinosis.

van't Hoff WG, Ledermann SE, Waldron M, Trompeter RS.

Pediatr Nephrol. 1995 Aug;9(4):483-4.

PMID:
7577416
7.

[Significance of the urine strip test in case of stunted growth].

Bertholet-Thomas A, Llanas B, Servais A, Bendelac N, Goizet C, Choukroun G, Novo R, Decramer S.

Arch Pediatr. 2015 Jul;22(7):756-62. doi: 10.1016/j.arcped.2015.04.016. Epub 2015 Jun 3. French.

PMID:
26047745
8.

Value of Renal Biopsy in Diagnosing Infantile Nephropathic Cystinosis Associated With Secondary Nephrogenic Diabetes Insipidus.

Joyce E, Ho J, El-Gharbawy A, Salgado CM, Ranganathan S, Reyes-Múgica M.

Pediatr Dev Pathol. 2017 Jan-Feb;20(1):72-75. doi: 10.1177/1093526616683873.

PMID:
28276300
9.

The Fanconi syndrome of cystinosis: insights into the pathophysiology.

Baum M.

Pediatr Nephrol. 1998 Aug;12(6):492-7. Review.

PMID:
9745876
10.

A rare case of cystinosis presenting with alkalosis.

Topaloğlu N, Tekin M, Yıldırım Ş, Gencer B.

Ren Fail. 2013;35(2):279-81. doi: 10.3109/0886022X.2012.745116. Epub 2012 Nov 26.

PMID:
23176067
11.

Cystinosis with Fanconi's syndrome. A case report.

Adams BK, Naidoo PM.

S Afr Med J. 1978 May 6;53(18):719-21.

PMID:
694607
12.

Time course of pathogenic and adaptation mechanisms in cystinotic mouse kidneys.

Gaide Chevronnay HP, Janssens V, Van Der Smissen P, N'Kuli F, Nevo N, Guiot Y, Levtchenko E, Marbaix E, Pierreux CE, Cherqui S, Antignac C, Courtoy PJ.

J Am Soc Nephrol. 2014 Jun;25(6):1256-69. doi: 10.1681/ASN.2013060598. Epub 2014 Feb 13.

13.

Late-onset nephropathic cystinosis: clinical presentation, outcome, and genotyping.

Servais A, Morinière V, Grünfeld JP, Noël LH, Goujon JM, Chadefaux-Vekemans B, Antignac C.

Clin J Am Soc Nephrol. 2008 Jan;3(1):27-35. doi: 10.2215/CJN.01740407.

14.

A patient with cystinosis presenting like bartter syndrome and review of literature.

Ertan P, Evrengul H, Ozen S, Emre S.

Iran J Pediatr. 2012 Dec;22(4):543-6.

15.

Nephropathic cystinosis: a case report.

Alexander E.

Am Fam Physician. 1991 May;43(5):1533-6. No abstract available.

PMID:
2021093
16.

Early oral cysteamine therapy for nephropathic cystinosis.

Gahl WA.

Eur J Pediatr. 2003 Dec;162 Suppl 1:S38-41. Epub 2003 Nov 11. Review.

PMID:
14610675
17.

The various renal manifestations of the nephropathic form of cystinosis.

Lemire J, Kaplan BS.

Am J Nephrol. 1984;4(2):81-5.

PMID:
6720758
18.

Cystinosis: practical tools for diagnosis and treatment.

Wilmer MJ, Schoeber JP, van den Heuvel LP, Levtchenko EN.

Pediatr Nephrol. 2011 Feb;26(2):205-15. doi: 10.1007/s00467-010-1627-6. Epub 2010 Aug 24. Review.

19.

The value of conjunctival biopsy in childhood cystinosis.

Cruz-Sánchez FF, Cervós-Navarro J, Rodríguez-Prados S, Lennert T.

Histol Histopathol. 1989 Jul;4(3):305-8.

PMID:
2520466
20.

Urinary protein excretion pattern and renal expression of megalin and cubilin in nephropathic cystinosis.

Wilmer MJ, Christensen EI, van den Heuvel LP, Monnens LA, Levtchenko EN.

Am J Kidney Dis. 2008 Jun;51(6):893-903. doi: 10.1053/j.ajkd.2008.03.010. Epub 2008 May 2.

PMID:
18455850

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