TY  - GEN
AU  - Takeichi,Takuya
AU  - Okuno,Yusuke
AU  - Kawamoto,Akane
AU  - Inoue,Takeshi
AU  - Nagamoto,Eiko
AU  - Murase,Chiaki
AU  - Shimizu,Eri
AU  - Tanaka,Kenichi
AU  - Kageshita,Yuichi
AU  - Fukushima,Satoshi
AU  - Kono,Michihiro
AU  - Ishikawa,Junko
AU  - Ihn,Hironobu
AU  - Takahashi,Yoshiyuki
AU  - Akiyama,Masashi
TI  - Reduction of stratum corneum ceramides in Neu-Laxova syndrome caused by phosphoglycerate dehydrogenase deficiency
SN  - 1539-7262
PY  - 2019///0902
KW  - Abnormalities, Multiple
KW  - metabolism
KW  - Adult
KW  - Amino Acids
KW  - Brain Diseases
KW  - Carbohydrate Metabolism, Inborn Errors
KW  - Ceramides
KW  - Female
KW  - Fetal Growth Retardation
KW  - Gestational Age
KW  - Humans
KW  - Ichthyosis
KW  - Immunohistochemistry
KW  - Infant, Newborn
KW  - Limb Deformities, Congenital
KW  - Male
KW  - Microcephaly
KW  - Phosphoglycerate Dehydrogenase
KW  - deficiency
KW  - Pregnancy
KW  - Psychomotor Disorders
KW  - Seizures
KW  - Sphingolipids
KW  - Exome Sequencing
KW  - Young Adult
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1194/jlr.P087536
ER  -