C. Gemperle-Britschgi

发表

Severe retinal degeneration in a patient with Canavan disease

I. MacDonald, P. Freund, J. Sass, 2020, Ophthalmic genetics.

Minireview on Glutamine Synthetase Deficiency, an Ultra-Rare Inborn Error of Amino Acid Biosynthesis

J. Häberle, V. Rüfenacht, C. Díez-Fernández, 2016, Biology.

Succinyl-CoA:3-oxoacid coenzyme A transferase (SCOT) deficiency: A rare and potentially fatal metabolic disease.

W. Yue, E. Faqeih, S. Grünert, 2021, Biochimie.

Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability

N. Blau, B. Thöny, G. Hoffmann, 2017, Journal of Medical Genetics.

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients.

S. Grünert, J. Sass, G. Mitchell, 2017, Molecular Genetics and Metabolism.

A novel common large genomic deletion and two new missense mutations identified in the Romanian phenylketonuria population.

B. Thöny, R. Vulturar, D. Anton-Păduraru, 2016, Gene.

Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families.

F. Alkuraya, M. Tarailo-Graovac, C. V. van Karnebeek, 2016, Molecular genetics and metabolism.

Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency.

S. Grünert, J. Sass, T. Derks, 2017, Molecular genetics and metabolism.

Novel patient missense mutations in the HSD17B10 gene affect dehydrogenase and mitochondrial tRNA modification functions of the encoded protein.

W. Yue, M. Leichsenring, U. Oppermann, 2017, Biochimica et biophysica acta. Molecular basis of disease.

Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.

Edward L. Huttlin, J. Mullikin, T. Meitinger, 2017, American journal of human genetics.

Expanding the phenotype in aminoacylase 1 (ACY1) deficiency: characterization of the molecular defect in a 63-year-old woman with generalized dystonia

L. Kluijtmans, R. Wevers, J. Sass, 2016, Metabolic Brain Disease.

Recurrent ketoacidosis: Is it a ketone metabolism disorder?

J. Sass, H. Onay, E. Canda, 2018 .