Reduction of stratum corneum ceramides in Neu-Laxova syndrome caused by phosphoglycerate dehydrogenase deficiency[S]
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DOI: 10.1194/jlr.p087536
Abstract: Neu-Laxova syndrome (NLS) is a very rare autosomal recessive congenital disorder characterized by disturbed development of the central nervous system and the skin and caused by mutations in any of the three genes involved in… read more here.
Keywords: stratum corneum; phosphoglycerate dehydrogenase; neu laxova; laxova syndrome ... See more keywords
Neu-Laxova Syndrome: An Unusual Association with Kyphosis.
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DOI: 10.5146/tjpath.2015.01353
Abstract: The Neu-Laxova syndrome is a rare autosomal recessive condition associated with neuro-ectodermal abnormalities and other patterns of severe malformations leading to prenatal or early postnatal lethality. Association with kyphosis is an extremely rare finding. A… read more here.
Keywords: association kyphosis; syndrome unusual; neu laxova; laxova syndrome ... See more keywords