DNACJ12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant-Reference-Cited by-同舟云学术

DNACJ12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant

Published:2021-05-20 Issue:6 Volume:36 Page:1405-1410
ISSN:0885-7490
Container-title:Metabolic Brain Disease
language:en
Short-container-title:Metab Brain Dis

Author:

Çıkı Kısmet^ORCID,Yıldız Yılmaz^ORCID,Yücel Yılmaz Didem^ORCID,Pektaş Emine^ORCID,Tokatlı Ayşegül^ORCID,Özgül R. Köksal^ORCID,Sivri H. Serap^ORCID,Dursun Ali^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Neurology (clinical),Biochemistry

Link

https://link.springer.com/content/pdf/10.1007/s11011-021-00753-0.pdf

Reference20 articles.

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2. Birk Møller L, Nygren AO, Scott P, Hougaard P, Bieber Nielsen J, Hartmann C, Güttler F, Tyfield L, Zschocke J (2007) Low proportion of whole exon deletions causing phenylketonuria in Denmark and Germany. Hum Mutat 28(2):207. https://doi.org/10.1002/humu.9481

3. Blau N, Hennermann JB, Langenbeck U, Lichter-Konecki U (2011) Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies. Mol Genet Metab 104:2–9. https://doi.org/10.5167/uzh-56963

4. Blau N, Martinez A, Hoffmann GF, Thony B (2018) DNAJC12 deficiency: A new strategy in the diagnosis of hyperphenylalaninemias. Mol Genet Metab 123(1):1–5. https://doi.org/10.1016/j.ymgme.2017.11.005

5. Blau N, Yue W, Perez B (2021) International Database of Variations in Phenylalanine Hydroxylase Gene. http://www.biopku.org/pah/home.asp. Accessed 08 April 2021

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3. DNAJC12 in monoamine metabolism, neurodevelopment and neurodegeneration;2023-06-23

4. A rare cause of hyperphenylalaninemia: four cases from a single family with DNAJC12 deficiency;Journal of Pediatric Endocrinology and Metabolism;2023-06-07

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