TY  - GEN
AU  - Benke,Paul J
AU  - Hidalgo,Ryan J
AU  - Braffman,Bruce H
AU  - Jans,Judith
AU  - Gassen,Koen L I van
AU  - Sunbul,Rawda
AU  - El-Hattab,Ayman W
TI  - Infantile Serine Biosynthesis Defect Due to Phosphoglycerate Dehydrogenase Deficiency: Variability in Phenotype and Treatment Response, Novel Mutations, and Diagnostic Challenges
SN  - 1708-8283
PY  - 2017///0714
KW  - Abnormalities, Multiple
KW  - diagnostic imaging
KW  - Adolescent
KW  - Brain Diseases
KW  - Carbohydrate Metabolism, Inborn Errors
KW  - complications
KW  - Child, Preschool
KW  - Family Health
KW  - Female
KW  - Fetal Growth Retardation
KW  - Humans
KW  - Ichthyosis
KW  - Infant
KW  - Limb Deformities, Congenital
KW  - Male
KW  - Microcephaly
KW  - Mutation
KW  - genetics
KW  - Phenotype
KW  - Phosphoglycerate Dehydrogenase
KW  - deficiency
KW  - Psychomotor Disorders
KW  - Seizures
KW  - Serine
KW  - biosynthesis
KW  - Young Adult
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1177/0883073817690094
ER  -