K. Brennerová

发表

EIF2S3 Mutations Associated with Severe X‐Linked Intellectual Disability Syndrome MEHMO

S. Haas, E. Leshinsky‐Silver, M. Skopkova, 2017, Human mutation.

Neonatal hypoglycemia, early-onset diabetes and hypopituitarism due to the mutation in EIF2S3 gene causing MEHMO syndrome.

M. Skopkova, D. Gašperíková, J. Stanik, 2018, Physiological research.

Activity of the liver enzyme ornithine carbamoyltransferase (OTC) in blood: LC-MS/MS assay for non-invasive diagnosis of ornithine carbamoyltransferase deficiency

J. Zeman, T. Honzík, M. Mistrik, 2017, Clinical chemistry and laboratory medicine.

Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data

M. Baumgartner, T. Suormala, S. Lorenzl, 2015, Journal of Inherited Metabolic Disease.

Congenital hyperinsulinism and glycogenosis-like phenotype due to a novel HNF4A mutation.

M. Skopkova, M. Rosoľanková, D. Gašperíková, 2017, Diabetes research and clinical practice.

GAI - distinct genotype and phenotype characteristics in reported Slovak patients.

D. Behúlová, J. Chandoga, K. Juríčková, 2016, Bratislavske lekarske listy.

Importance of homocysteine determination in differential diagnosis of rare causes of macrocytic anaemia

D. Behúlová, K. Brennerová, Silvia Radová, 2022, Biologia.

N-Glycoprofiling of SLC35A2-CDG: Patient with a Novel Hemizygous Variant

P. Baráth, M. Nemčovič, Z. Pakanová, 2023, Biomedicines.

TMEM70 deficiency: long-term outcome of 48 patients

E. Bertini, H. Mandel, S. Rahman, 2015, Journal of Inherited Metabolic Disease.

Effect of Ornithine Transcarbamylase (OTC) Deficiency on Pregnancy and Puerperium

M. Vargová, I. Rusňák, K. Brennerová, 2022, Diagnostics.

ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability

M. Skopkova, D. Gašperíková, M. Karhanek, 2023, Orphanet Journal of Rare Diseases.

Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients

M. Skopkova, D. Gašperíková, J. Stanik, 2018, Endocrine regulations.

Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report

M. Skopkova, D. Gašperíková, J. Stanik, 2021, BMC Pediatrics.

EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO

S. Haas, E. Leshinsky‐Silver, M. Skopkova, 2018, Yearbook of Paediatric Endocrinology.