Cystathionine Beta-Synthase Deficiency: Three Consecutive Cases Detected in 40 Days by Newborn Screening in Emilia Romagna (Italy) and a Comprehensive Review of the Literature.
CBSD
LC-MS/MS
betaine
classic homocystinuria
cysthiatonine beta-synthase deficiency
diet
expanded newborn screening
homocysteine
hypermethioninemia
pyridoxine
Journal
Children (Basel, Switzerland)
ISSN: 2227-9067
Titre abrégé: Children (Basel)
Pays: Switzerland
ID NLM: 101648936
Informations de publication
Date de publication:
17 Feb 2023
17 Feb 2023
Historique:
received:
31
12
2022
revised:
10
02
2023
accepted:
15
02
2023
entrez:
25
2
2023
pubmed:
26
2
2023
medline:
26
2
2023
Statut:
epublish
Résumé
Cysthiatonine beta-synthase (CBS) deficiency (CBSD) is an autosomal recessive rare disorder caused by variations on
Identifiants
pubmed: 36832525
pii: children10020396
doi: 10.3390/children10020396
pmc: PMC9955056
pii:
doi:
Types de publication
Journal Article
Langues
eng
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