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Hepato-Gastroenterology|October 1, 1985
Asymptomatic decreased activities of hepatic glucose-6-phosphatase and glycogen phosphorylase in a number of children with chronic liver diseaseD Pieniaźek, E Pronicka, J Socha, et al.Human Genetics|July 8, 1998
Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase geneK L Swango, M Demirkol, G Hüner, et al.Journal of Applied Genetics|October 18, 2003
X-linked hypophosphatemia in Polish patients. 2. Analysis of clinical features and genotype-phenotype correlationE Popowska, E Pronicka, A Sułek, et al.Clinical Genetics|September 13, 2006
Molecular background of polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome in a Polish population: novel AIRE mutations and an estimate of disease prevalenceB Stolarski, E Pronicka, L Korniszewski, et al.Journal of Inherited Metabolic Disease|April 26, 2007
Transferrin hypoglycosylation in hereditary fructose intolerance: using the clues and avoiding the pitfallsM Adamowicz, R Płoski, D Rokicki, et al.American Journal of Human Genetics|September 1, 1995
The molecular basis of canavan (aspartoacylase deficiency) disease in European non-Jewish patientsA Shaag, Y Anikster, E Christensen, et al.The Neuroradiology Journal|September 25, 2013
Proton MR Spectroscopy in Patients with Leigh SyndromeE Jurkiewicz, S Chełstowska, I Pakuła-Kościesza, et al.Journal of Inherited Metabolic Disease|August 21, 2007
High frequency of missense mutations in glycogen storage disease type VIN J Beauchamp, J Taybert, M P Champion, et al.American Journal of Human Genetics|September 1, 1996
Linkage disequilibrium analysis in young populations: pseudo-vitamin D-deficiency rickets and the founder effect in French CanadiansM Labuda, D Labuda, M Korab-Laskowska, et al.Journal of Applied Genetics|February 11, 2010
Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutationsM Chmara, B Wasag, M Zuk, et al.Pageof 5