Matches in Nanopublications for { ?s ?p "[We report the first case of leukodystrophy with systemic cytochrome oxidase deficiency caused by a loss of function mutation in the SURF1 gene in a 2-year-old girl presenting with failure to thrive, global neurodevelopmental regression, and lactic acidosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- NP185870.RAuSvK2CPinIFgLXEN_J7j9skOjcFnZmNbrbGiNAZYlYw130_assertion description "[We report the first case of leukodystrophy with systemic cytochrome oxidase deficiency caused by a loss of function mutation in the SURF1 gene in a 2-year-old girl presenting with failure to thrive, global neurodevelopmental regression, and lactic acidosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP185870.RAuSvK2CPinIFgLXEN_J7j9skOjcFnZmNbrbGiNAZYlYw130_provenance.
- assertion description "[We report the first case of leukodystrophy with systemic cytochrome oxidase deficiency caused by a loss of function mutation in the SURF1 gene in a 2-year-old girl presenting with failure to thrive, global neurodevelopmental regression, and lactic acidosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion description "[We report the first case of leukodystrophy with systemic cytochrome oxidase deficiency caused by a loss of function mutation in the SURF1 gene in a 2-year-old girl presenting with failure to thrive, global neurodevelopmental regression, and lactic acidosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion description "[We report the first case of leukodystrophy with systemic cytochrome oxidase deficiency caused by a loss of function mutation in the SURF1 gene in a 2-year-old girl presenting with failure to thrive, global neurodevelopmental regression, and lactic acidosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- NP803386.RAJkvdyByJax3jI8sRqxGIar2yEn7rzkv-IRVUsmaIFK4130_assertion description "[We report the first case of leukodystrophy with systemic cytochrome oxidase deficiency caused by a loss of function mutation in the SURF1 gene in a 2-year-old girl presenting with failure to thrive, global neurodevelopmental regression, and lactic acidosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP803386.RAJkvdyByJax3jI8sRqxGIar2yEn7rzkv-IRVUsmaIFK4130_provenance.
- NP812622.RAJjizPIqO30iT2AdxRR8C2szEAnHHaU-4sQ8n9I08BfU130_assertion description "[We report the first case of leukodystrophy with systemic cytochrome oxidase deficiency caused by a loss of function mutation in the SURF1 gene in a 2-year-old girl presenting with failure to thrive, global neurodevelopmental regression, and lactic acidosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP812622.RAJjizPIqO30iT2AdxRR8C2szEAnHHaU-4sQ8n9I08BfU130_provenance.
- NP720599.RAPn_LBgscVl4TA2CNXLgSVf7MCf5xLYpQgYf76cnqiec130_assertion description "[We report the first case of leukodystrophy with systemic cytochrome oxidase deficiency caused by a loss of function mutation in the SURF1 gene in a 2-year-old girl presenting with failure to thrive, global neurodevelopmental regression, and lactic acidosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP720599.RAPn_LBgscVl4TA2CNXLgSVf7MCf5xLYpQgYf76cnqiec130_provenance.
- NP321111.RANxcKwKudb3tjiSO60f8JKY9RZuxuXdPbfQcgZ5VYpY4130_assertion description "[We report the first case of leukodystrophy with systemic cytochrome oxidase deficiency caused by a loss of function mutation in the SURF1 gene in a 2-year-old girl presenting with failure to thrive, global neurodevelopmental regression, and lactic acidosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP321111.RANxcKwKudb3tjiSO60f8JKY9RZuxuXdPbfQcgZ5VYpY4130_provenance.