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1990 | 1 |
2003 | 1 |
2024 | 0 |
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Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency.
Hum Mol Genet. 2003 Jul 1;12(13):1631-41. doi: 10.1093/hmg/ddg172.
Hum Mol Genet. 2003.
PMID: 12812989
Apparent Smith-Lemli-Opitz syndrome in a child with a previously undescribed form of mucolipidosis not involving the neurons.
Parnes S, Hunter AG, Jimenez C, Carpenter BF, MacDonald I.
Parnes S, et al.
Am J Med Genet. 1990 Mar;35(3):397-405. doi: 10.1002/ajmg.1320350317.
Am J Med Genet. 1990.
PMID: 2309789
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