Nanopublications LDF server

Matches in Nanopublications for { ?s ?p "[We then started therapy against hyperammonaemia with little effect and, at the age of 15 years, we analysed the GLUD1 gene and found a previously reported gain-of-function mutation in the gene, resulting in a change of her diagnosis to hyperinsulinism/hyperammonaemia (HI/HA) syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }

• NP572332.RAiN48jMTC_IJ06PVoQpFO523D9qP8cxHwG125nLn7mT4130_assertion description "[We then started therapy against hyperammonaemia with little effect and, at the age of 15 years, we analysed the GLUD1 gene and found a previously reported gain-of-function mutation in the gene, resulting in a change of her diagnosis to hyperinsulinism/hyperammonaemia (HI/HA) syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP572332.RAiN48jMTC_IJ06PVoQpFO523D9qP8cxHwG125nLn7mT4130_provenance.
• assertion description "[We then started therapy against hyperammonaemia with little effect and, at the age of 15 years, we analysed the GLUD1 gene and found a previously reported gain-of-function mutation in the gene, resulting in a change of her diagnosis to hyperinsulinism/hyperammonaemia (HI/HA) syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• assertion description "[We then started therapy against hyperammonaemia with little effect and, at the age of 15 years, we analysed the GLUD1 gene and found a previously reported gain-of-function mutation in the gene, resulting in a change of her diagnosis to hyperinsulinism/hyperammonaemia (HI/HA) syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
• NP429027.RAV3_1AXdL5Y4WC4d67tQgQSzO6xG61smQWWg_b68l0bg130_assertion description "[We then started therapy against hyperammonaemia with little effect and, at the age of 15 years, we analysed the GLUD1 gene and found a previously reported gain-of-function mutation in the gene, resulting in a change of her diagnosis to hyperinsulinism/hyperammonaemia (HI/HA) syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP429027.RAV3_1AXdL5Y4WC4d67tQgQSzO6xG61smQWWg_b68l0bg130_provenance.
• NP571341.RAOaVvt_KTeq2mXhPZ9Mj01-9FwHObFwAIQnQbuKxVe_c130_assertion description "[We then started therapy against hyperammonaemia with little effect and, at the age of 15 years, we analysed the GLUD1 gene and found a previously reported gain-of-function mutation in the gene, resulting in a change of her diagnosis to hyperinsulinism/hyperammonaemia (HI/HA) syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP571341.RAOaVvt_KTeq2mXhPZ9Mj01-9FwHObFwAIQnQbuKxVe_c130_provenance.
• NP512657.RAXqVds7agzK-l4pwDpclgbvXprcL1gcY7Mh0liMXtVFg130_assertion description "[We then started therapy against hyperammonaemia with little effect and, at the age of 15 years, we analysed the GLUD1 gene and found a previously reported gain-of-function mutation in the gene, resulting in a change of her diagnosis to hyperinsulinism/hyperammonaemia (HI/HA) syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP512657.RAXqVds7agzK-l4pwDpclgbvXprcL1gcY7Mh0liMXtVFg130_provenance.
• NP433890.RAqswaiSU6B2Ll7MYemMCpkFfkUtdAH5brzrZLloVbTZU130_assertion description "[We then started therapy against hyperammonaemia with little effect and, at the age of 15 years, we analysed the GLUD1 gene and found a previously reported gain-of-function mutation in the gene, resulting in a change of her diagnosis to hyperinsulinism/hyperammonaemia (HI/HA) syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP433890.RAqswaiSU6B2Ll7MYemMCpkFfkUtdAH5brzrZLloVbTZU130_provenance.
• NP512656.RAxONM7gft5auJqSHM9m0kURPoPJ1mvUyxDkCcjl7OCvI130_assertion description "[We then started therapy against hyperammonaemia with little effect and, at the age of 15 years, we analysed the GLUD1 gene and found a previously reported gain-of-function mutation in the gene, resulting in a change of her diagnosis to hyperinsulinism/hyperammonaemia (HI/HA) syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP512656.RAxONM7gft5auJqSHM9m0kURPoPJ1mvUyxDkCcjl7OCvI130_provenance.