Adrenoleukodystrophy

X-linked adrenoleukodystrophy (ALD) is caused by mutations in the ABCD1 gene that encodes a protein of the peroxisomal membrane named ALDP. Mutations in ALDP result in elevated levels of very long chain fatty acids (VLCFA) and reduced VLCFA oxidation in peroxisomes. Three main phe-notypes are seen i...

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Bibliographische Detailangaben
Hauptverfasser:	Cappa, Marco, Bizzarri, Carla, Vollono, Catello, Petroni, Anna, Banni, Sebastiano
Format:	Buchkapitel
Sprache:	eng
Schlagworte:	Adrenoleukodystrophy - diagnosis Adrenoleukodystrophy - etiology Adrenoleukodystrophy - genetics Adrenoleukodystrophy - therapy Adult ATP Binding Cassette Transporter, Subfamily D, Member 1 ATP-Binding Cassette Transporters - genetics ATP-Binding Cassette Transporters - metabolism ATP-Binding Cassette Transporters - physiology Chapter Child Child, Preschool Diagnostic Techniques, Endocrine Endocrinology Female Humans Male Medical genetics Paediatric medicine
Online-Zugang:	Volltext
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