Matches in Nanopublications for { ?s ?p "[Mutations in GLUD1, HADH, GCK and HNF4A genes were sought in patients with diazoxide-responsive CHI with hyperammonaemia (GLUD1), raised 3-hydroxybutyrylcarnitine and/or consanguinity (HADH), positive family history (GCK) or when CHI was diagnosed within the first week of life (HNF4A).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- NP226549.RAVp9OwloKdS12q1aIeFsuueCpZMqv-wHnjf7Uc14srko130_assertion description "[Mutations in GLUD1, HADH, GCK and HNF4A genes were sought in patients with diazoxide-responsive CHI with hyperammonaemia (GLUD1), raised 3-hydroxybutyrylcarnitine and/or consanguinity (HADH), positive family history (GCK) or when CHI was diagnosed within the first week of life (HNF4A).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP226549.RAVp9OwloKdS12q1aIeFsuueCpZMqv-wHnjf7Uc14srko130_provenance.
- NP436229.RAbuoo85USW9VrMNbLHOUIQs_SYFoW-mkK_q1BbYV7EB4130_assertion description "[Mutations in GLUD1, HADH, GCK and HNF4A genes were sought in patients with diazoxide-responsive CHI with hyperammonaemia (GLUD1), raised 3-hydroxybutyrylcarnitine and/or consanguinity (HADH), positive family history (GCK) or when CHI was diagnosed within the first week of life (HNF4A).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP436229.RAbuoo85USW9VrMNbLHOUIQs_SYFoW-mkK_q1BbYV7EB4130_provenance.
- assertion description "[Mutations in GLUD1, HADH, GCK and HNF4A genes were sought in patients with diazoxide-responsive CHI with hyperammonaemia (GLUD1), raised 3-hydroxybutyrylcarnitine and/or consanguinity (HADH), positive family history (GCK) or when CHI was diagnosed within the first week of life (HNF4A).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- NP433914.RAfj0CcwrVUqcYNDM3X7by4R216r5bhVXFkfo7ivqc0kw130_assertion description "[Mutations in GLUD1, HADH, GCK and HNF4A genes were sought in patients with diazoxide-responsive CHI with hyperammonaemia (GLUD1), raised 3-hydroxybutyrylcarnitine and/or consanguinity (HADH), positive family history (GCK) or when CHI was diagnosed within the first week of life (HNF4A).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP433914.RAfj0CcwrVUqcYNDM3X7by4R216r5bhVXFkfo7ivqc0kw130_provenance.
- NP429054.RAKqJVECCH5cz5sUx06SRWRQAD5eVVtpVBx2B7fdYyohE130_assertion description "[Mutations in GLUD1, HADH, GCK and HNF4A genes were sought in patients with diazoxide-responsive CHI with hyperammonaemia (GLUD1), raised 3-hydroxybutyrylcarnitine and/or consanguinity (HADH), positive family history (GCK) or when CHI was diagnosed within the first week of life (HNF4A).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP429054.RAKqJVECCH5cz5sUx06SRWRQAD5eVVtpVBx2B7fdYyohE130_provenance.
- NP461588.RAIaKZwue3emuuCvsnPJtHzgcjJ0ZqZ4wjWC-x1viA22w130_assertion description "[Mutations in GLUD1, HADH, GCK and HNF4A genes were sought in patients with diazoxide-responsive CHI with hyperammonaemia (GLUD1), raised 3-hydroxybutyrylcarnitine and/or consanguinity (HADH), positive family history (GCK) or when CHI was diagnosed within the first week of life (HNF4A).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP461588.RAIaKZwue3emuuCvsnPJtHzgcjJ0ZqZ4wjWC-x1viA22w130_provenance.