A Study of Maternal Patients Diagnosed with Inborn Errors of Metabolism Due to Positive Newborn Mass Screening in Their Newborns
Bibliographic Data
| ID | 15715780 |
|---|---|
| Authors | Takanori Onuki (0000-0001-7798-2100, Niigata University), Shota Hiroshima (Niigata University), Kentaro Sawano (0000-0002-6490-8216, Niigata University), Nao Shibata (Niigata University), Yohei Ogawa (Niigata University), Keisuke Nagasaki (0000-0002-5882-661X, Niigata University), Hiromi Nyuzuki (0000-0003-1502-0875, Niigata University, corresponding author) |
| Year | 2023 |
| Volume | 10 |
| Issue | 8 |
| Pages | 1341-1341 |
| Publication date | 2023-08-03 |
| Open Access | Yes |
| Type | ARTICLE |
| Venue | Children (JOURNAL) |
| Journal identifiers | ISSN: 2227-9067 • E-ISSN: 2227-9067 |
| Publisher | Multidisciplinary Digital Publishing Institute (PUBLISHER • CH) |
| DOI | 10.3390/children10081341 |
| PMID | 37628339 |
| OpenAlex | W4385520485 |
| Language | EN |
| References cited | 1 |
New mothers with IEM cannot be considered as mild cases and need to be treated when necessary. The two novel SLC22A5 variants further expand the variant spectrum of PCD
Carnitine · Disease · False positive paradox · Inborn error of metabolism · Newborn screening · Obstetrics · Pathological · Population · Folate and B Vitamins Research · Medicine · Metabolism and Genetic Disorders · Mitochondrial Function and Pathology · Internal Medicine · Pediatrics
| Highly cited | No |
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