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UnknownThe First 1000 Days of PKU: A Narrative Review of Maternal PKU and Early Life Management After Positive Newborn Screening.
Not available
S-EPMC12845488 | biostudies-literature
UnknownEthylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.
Not available
S-EPMC1181922 | biostudies-literature
ProteomicsProteomic study in Pompe disease
The raw data of SWATH proteomic analysis of plasma in Pompe disease patients and controls
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
MSV000086114 | MassIVE
UnknownLong term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C.
Not available
S-EPMC4359492 | biostudies-literature
UnknownDysbiosis, Host Metabolism, and Non-communicable Diseases: Trialogue in the Inborn Errors of Metabolism.
Not available
S-EPMC8475650 | biostudies-literature
UnknownExpanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience.
Not available
S-EPMC9397032 | biostudies-literature
UnknownBi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.
Not available
S-EPMC9502063 | biostudies-literature
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