Validity and reliability of the MetabQoL 1.0 and assessment of neuropsychiatric burden in organic acidemias: Reflections from Turkey-Reference-Cited by-同舟云学术

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Validity and reliability of the MetabQoL 1.0 and assessment of neuropsychiatric burden in organic acidemias: Reflections from Turkey

Published:2024-01 Issue:1 Volume:141 Page:108117
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Ersak Ayşe Şenol,Çak Halime Tuna,Yıldız Yılmaz,Çavdar Merve Kaşıkcı,Tunç Sıla,Özer Nagihan,Zeltner Nina A.,Huemer Martina,Tokatlı Ayşegül,Haliloğlu Göknur

Funder

Hacettepe Üniversitesi

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference36 articles.

1. Organic acidurias in adults: late complications and management;Tuncel;J. Inherit. Metab. Dis.,2018

2. Long-term follow-up of 77 patients with isolated methylmalonic acidaemia;Baumgarter;J. Inherit. Metab. Dis.,1995

3. Methylmalonic and propionic acidaemias: management and outcome;de Baulny;J. Inherit. Metab. Dis.,2005

4. ‘Classical’ organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry;Dionisi-Vici;J. Inherit. Metab. Dis.,2006

5. Propionic acidemia: neonatal versus selective metabolic screening;Grunert;J. Inherit. Metab. Dis.,2012

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