Biotinidase deficiency due to a de novo mutation or gonadal mosaicism in a first child
Biotinidase deficiency (BD), which is caused by BTD genetic lesions, if untreated, can result in neurological and cutaneous manifestations. Biotin supplementation can improve or prevent symptoms.
Gespeichert in:
| Autor*in: |
Tonin, Rodolfo [verfasserIn] |
|---|
| Format: |
E-Artikel |
|---|---|
| Sprache: |
Englisch |
| Erschienen: |
2015 |
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| Umfang: |
3 |
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| Übergeordnetes Werk: |
Enthalten in: Li-CO - Zhang, Peng-Fang ELSEVIER, 2022, international journal of clinical chemistry and applied molecular biology, Amsterdam [u.a.] |
|---|---|
| Übergeordnetes Werk: |
volume:445 ; year:2015 ; day:20 ; month:05 ; pages:70-72 ; extent:3 |
| Links: |
|---|
| DOI / URN: |
10.1016/j.cca.2015.03.010 |
|---|
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biotinidase deficiency due to a de novo mutation or gonadal mosaicism in a first child |
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Biotinidase deficiency due to a de novo mutation or gonadal mosaicism in a first child |
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Biotinidase deficiency (BD), which is caused by BTD genetic lesions, if untreated, can result in neurological and cutaneous manifestations. Biotin supplementation can improve or prevent symptoms. |
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Biotinidase deficiency (BD), which is caused by BTD genetic lesions, if untreated, can result in neurological and cutaneous manifestations. Biotin supplementation can improve or prevent symptoms. |
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Biotinidase deficiency (BD), which is caused by BTD genetic lesions, if untreated, can result in neurological and cutaneous manifestations. Biotin supplementation can improve or prevent symptoms. |
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Biotinidase deficiency due to a de novo mutation or gonadal mosaicism in a first child |
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