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Combined isobutyryl‐CoA and multiple acyl‐CoA dehydrogenase deficiency in a boy with altered riboflavin homeostasis
Abstract In this report, we describe the case of an 11‐year‐old boy, who came to our attention for myalgia and muscle weakness, associated with inappetence and vomiting. Hypertransaminasemia was also noted, with ultrasound evidence of hepatomegaly. Biochemical investigations revealed acylcarnitine a...
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| Publicado no: | JIMD Reports |
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| Main Authors: | , , , , , , , , , , |
| Formato: | Artigo |
| Publicado em: |
Wiley
2022-07-01
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| Assuntos: | |
| Acesso em linha: | https://doi.org/10.1002/jmd2.12292 |
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