Stefan Frund
Overview
Explore the profile of Stefan Frund including associated specialties, affiliations and a list of published articles.
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10
Citations
329
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Recent Articles
1.
Morimoto M, Yu Z, Stenzel P, Clewing J, Najafian B, Mayfield C, et al.
Orphanet J Rare Dis
. 2012 Sep;
7:70.
PMID: 22998683
Background: Arteriosclerosis and emphysema develop in individuals with Schimke immuno-osseous dysplasia (SIOD), a multisystem disorder caused by biallelic mutations in SMARCAL1 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1)....
2.
Hunter K, Lucke T, Spranger J, Smithson S, Alpay H, Andre J, et al.
Eur J Pediatr
. 2009 Dec;
169(7):801-11.
PMID: 20013129
Schimke immunoosseous dysplasia (SIOD) is an autosomal recessive multisystem disorder characterized by prominent spondyloepiphyseal dysplasia, T cell deficiency, and focal segmental glomerulosclerosis. Biallelic mutations in swi/snf-related, matrix-associated, actin-dependent regulator of...
3.
Hocker B, Weber L, Feneberg R, Drube J, John U, Fehrenbach H, et al.
Nephrol Dial Transplant
. 2009 Oct;
25(2):617-24.
PMID: 19793929
Background: Long-term corticosteroid treatment impairs growth and increases cardiovascular risk factors. Hence, steroid withdrawal constitutes a major topic in paediatric renal transplantation and maintenance immunosuppression. Methods: The lack of data...
4.
Hocker B, Weber L, Feneberg R, Drube J, John U, Fehrenbach H, et al.
Transplantation
. 2009 Mar;
87(6):934-41.
PMID: 19300199
Background: : Many transplant centers practice late steroid withdrawal after pediatric renal transplantation, but evidence-based data on the overall risk-to-benefit ratio in this patient population are lacking. Methods: : We...
5.
Utsch B, Bokenkamp A, Benz M, Besbas N, Dotsch J, Franke I, et al.
Am J Kidney Dis
. 2006 Dec;
48(6):942.e1-14.
PMID: 17162149
Background: Dent disease is an X-linked tubulopathy frequently caused by mutations affecting the voltage-gated chloride channel and chloride/proton antiporter ClC-5. A recent study showed that defects in OCRL1, encoding a...
6.
Clewing J, Fryssira H, Goodman D, Smithson S, Sloan E, Lou S, et al.
Hum Mutat
. 2006 Nov;
28(3):273-83.
PMID: 17089404
Schimke immunoosseous dysplasia (SIOD), which is characterized by prominent spondyloepiphyseal dysplasia, T-cell deficiency, and focal segmental glomerulosclerosis, is a panethnic autosomal recessive multisystem disorder with variable expressivity. Biallelic mutations in...
7.
Ludwig M, Utsch B, Balluch B, Frund S, Kuwertz-Broking E, Bokenkamp A
Pediatr Nephrol
. 2006 Jun;
21(9):1241-50.
PMID: 16807762
Hypercalciuria is regarded as a characteristic symptom of Dent disease, an X-linked recessive tubulopathy characterized by low molecular weight (LMW) proteinuria, nephrocalcinosis/nephrolithiasis, and progressive renal failure due to mutations in...
8.
Pieper A, Haffner D, Hoppe B, Dittrich K, Offner G, Bonzel K, et al.
Am J Kidney Dis
. 2006 Mar;
47(4):625-35.
PMID: 16564940
Background: A multicenter, randomized, open-label, crossover study was performed to compare the efficacy and safety of sevelamer, a calcium-free phosphate binder, with calcium acetate in pediatric patients with chronic kidney...
9.
Kilic S, Donmez O, Sloan E, Elizondo L, Huang C, Andre J, et al.
Am J Med Genet A
. 2005 May;
135(2):206-10.
PMID: 15884045
Schimke immuno-osseous dysplasia (SIOD) is characterized by spondyloepiphyseal dysplasia, nephropathy, and T-cell deficiency. SIOD is caused by mutations in the putative chromatin remodeling protein SMARCAL1. We report an 8-year-old boy...
10.
Boerkoel C, Takashima H, John J, Yan J, Stankiewicz P, Rosenbarker L, et al.
Nat Genet
. 2002 Jan;
30(2):215-20.
PMID: 11799392
Schimke immuno-osseous dysplasia (SIOD, MIM 242900) is an autosomal-recessive pleiotropic disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction and T-cell immunodeficiency. Using genome-wide linkage mapping and a positional...