Results 191 to 200 of about 165,809 (261)

International Survey on Phenylketonuria Newborn Screening. [PDF]

open access: yesInt J Neonatal Screen
Trampuž D   +16 more
europepmc   +1 more source

The wide phenotypic spectrum of thiamine metabolism dysfunction syndrome 5 and its treatment. [PDF]

open access: yesOrphanet J Rare Dis
Dallan A   +8 more
europepmc   +1 more source

Diagnosis of glutaric aciduria type I based on neuroradiological findings: when neonatal screening fails. [PDF]

open access: yesItal J Pediatr
Gragnaniello V   +8 more
europepmc   +1 more source

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