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Treatment of Massive Labial and Gingival Hypertrophy in a Patient With Infantile Systemic Hyalinosis—A Case Report
British Library Online Contents | 2015| -
Neurologic Presentation, Diagnostics, and Therapeutic Insights in a Severe Case of Adenylosuccinate Lyase Deficiency
British Library Online Contents | 2012| -
Search for female heterozygotes in families with confirmed or suspected ornithine transcarbamylase (OTC) deficiency
British Library Online Contents | 1996| -
Methylenetetrahydrofolate reductase deficiency - the clinical course in a late diagnosed case
British Library Conference Proceedings | 2003| -
Three novel and one recurrent ornithine carbanoyltransferase gene mutations in Polish patients
British Library Online Contents | 1999| -
Ornithine transcarbamylase deficiency in pregnancy: case report
British Library Online Contents | 2010| -
Ornithine transcarbamylase gene mutations and genotype-phenotype correlation in Polish patients with hyperammonemia type 2
British Library Online Contents | 1999| -
Partial ABCC8 gene deletion mutations causing diazoxide-unresponsive hyperinsulinaemic hypoglycaemia
British Library Online Contents | 2012| -
In-Depth Analysis of Hyaline Fibromatosis Syndrome Frameshift Mutations at the Same Site Reveal the Necessity of Personalized Therapy
British Library Online Contents | 2013| -
341-P The natural history of ornithine transcarbamylase deficiency late-onset form due to prevalent in Poland A208T mutation
British Library Conference Proceedings | 2008|
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