Rowińska E - Search Results

1

Molecular background of polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome in a Polish population: novel AIRE mutations and an estimate of disease prevalence.

Stolarski B, Pronicka E, Korniszewski L, Pollak A, Kostrzewa G, Rowińska E, Włodarski P, Skórka A, Gremida M, Krajewski P, Ploski R. Stolarski B, et al. Among authors: rowinska e. Clin Genet. 2006 Oct;70(4):348-54. doi: 10.1111/j.1399-0004.2006.00690.x. Clin Genet. 2006. PMID: 16965330

2

X-linked hypophosphatemia in Polish patients. 1. Mutations in the PHEX gene.

Popowska E, Pronicka E, Sułek A, Jurkiewicz D, Rowe P, Rowinska E, Krajewska-Walasek M. Popowska E, et al. Among authors: rowinska e. J Appl Genet. 2000;41(4):293-302. J Appl Genet. 2000. PMID: 14564077

3

Biallelic mutations in CYP24A1 or SLC34A1 as a cause of infantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity: molecular study of 11 historical IIH cases.

Pronicka E, Ciara E, Halat P, Janiec A, Wójcik M, Rowińska E, Rokicki D, Płudowski P, Wojciechowska E, Wierzbicka A, Książyk JB, Jacoszek A, Konrad M, Schlingmann KP, Litwin M. Pronicka E, et al. Among authors: rowinska e. J Appl Genet. 2017 Aug;58(3):349-353. doi: 10.1007/s13353-017-0397-2. Epub 2017 May 3. J Appl Genet. 2017. PMID: 28470390 Free PMC article.

4

Biochemical and DNA markers of X-linked hypophosphataemic rickets: a study of sporadic cases.

Pronicka E, Popowska E, Rowińska E, Piekutowska D, Oglecka M, Krajewska-Walasek M. Pronicka E, et al. Among authors: rowinska e. J Inherit Metab Dis. 1992;15(3):335-8. doi: 10.1007/BF02435970. J Inherit Metab Dis. 1992. PMID: 1357228 No abstract available.

5

Tubular function of kidney after galactose loading in two patients with glycogen storage disease type XL.

Pronicka E, Rowińska E, Miłoszewska E. Pronicka E, et al. Among authors: rowinska e. J Inherit Metab Dis. 1987;10(3):270. doi: 10.1007/BF01800075. J Inherit Metab Dis. 1987. PMID: 3123787 No abstract available.

6

Anthropometric characteristics of X-linked hypophosphatemia.

Pronicka E, Popowska E, Rowińska E, Arasimowicz E, Syczewska M, Jurkiewicz D, Lebiedowski M. Pronicka E, et al. Among authors: rowinska e. Am J Med Genet A. 2004 Apr 15;126A(2):141-9. doi: 10.1002/ajmg.a.20572. Am J Med Genet A. 2004. PMID: 15057978

7

Abolished phosphaturic response to parathormone in adult patients with Fahr disease and its restoration after propranolol administration.

Pronicka E, Kulczycki J, Rowińska E, Kuran W. Pronicka E, et al. Among authors: rowinska e. J Neurol. 1988 Jan;235(3):185-7. doi: 10.1007/BF00314315. J Neurol. 1988. PMID: 2835440

8

X-linked hypophosphatemia in Polish patients. 2. Analysis of clinical features and genotype-phenotype correlation.

Popowska E, Pronicka E, Sułek A, Jurkiewicz D, Rowińska E, Sykut-Cegielska J, Rump Z, Arasimowicz E, Krajewska-Walasek M. Popowska E, et al. Among authors: rowinska e. J Appl Genet. 2001;42(1):73-88. J Appl Genet. 2001. PMID: 14564066

9

Increased serum level of 1,25-dihydroxyvitamin D3 after parathyroid hormone in the normocalcemic phase of idiopathic hypercalcemia.

Pronicka E, Kulczycka H, Lorenc R, Prószyńska K, Gradzka J, Rowińska E. Pronicka E, et al. Among authors: rowinska e. J Pediatr. 1988 Jun;112(6):930-3. doi: 10.1016/s0022-3476(88)80221-x. J Pediatr. 1988. PMID: 3373402 No abstract available.

10

Treatment of two children with hereditary tyrosinaemia type I and long-standing renal disease with a 4-hydroxyphenylpyruvate dioxygenase inhibitor (NTBC).

Pronicka E, Rowinska E, Bentkowski Z, Zawadzki J, Holme E, Lindstedt S. Pronicka E, et al. Among authors: rowinska e. J Inherit Metab Dis. 1996;19(2):234-8. doi: 10.1007/BF01799438. J Inherit Metab Dis. 1996. PMID: 8739974 No abstract available.

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