A novel HADHA variant associated with an atypical moderate and late-onset LCHAD deficiency-Reference-Cited by-同舟云学术

A novel HADHA variant associated with an atypical moderate and late-onset LCHAD deficiency

Published:2022-06 Issue: Volume:31 Page:100860
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Dessein Anne-Frédérique,Hebbar Eléonore,Vamecq Joseph,Lebredonchel Elodie,Devos Aurore,Ghoumid Jamal,Mention Karine,Dobbelaere Dries,Chevalier-Curt Marie Joncquel,Fontaine Monique,Defoort Sabine,Smirnov Vassily,Douillard Claire,Dhaenens Claire-Marie

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference24 articles.

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2. Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency;Lotz-Havla;Orphanet J. Rare Dis.,2018

3. Ophthalmologic findings in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation: a new type of hereditary metabolic chorioretinopathy;Tyni;Ophthalmology,1998

4. Diagnosis, treatment, and clinical outcome of patients with mitochondrial trifunctional Protein/Long-chain 3-hydroxy acyl-CoA dehydrogenase deficiency;De Biase;JIMD Rep.,2017

5. Ophthalmic pathology in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation;Tyni;Curr. Eye Res.,1998

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