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Search for publications relevant for "reductase deficiency"
reductase deficiency
Publication
Class
Person
Publication
Programmes
publication
Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency
2016 |
First Faculty of Medicine
publication
cblE type of homocystinuria due to methionine synthase reductase deficiency: Functional correction by minigene expression
2005 |
First Faculty of Medicine
publication
cblE type of homocystinuria due to methionine synthase reductase deficiency: Functional correction by minigene expresion
2005 |
Faculty of Physical Education and Sport
publication
cblE type of homocystinuria due to methionine synthase reductase deficiency: Functional correction by minigene expression
2005 |
Faculty of Physical Education and Sport
publication
Insights into Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency: Molecular Genetic and Enzymatic Characterization of 76 Patients
2015 |
First Faculty of Medicine
publication
CblE type of homocystinuria due to methionine synthase reductase deficiency: Clinical and molecular studies and prenatal diagnosis in two families
2002 |
First Faculty of Medicine
publication
CblE type of homocystinuria due to methionine synthase reductase deficiency: Clinical and molecular studies and prenatal diagnosis in two families
2002 |
Faculty of Physical Education and Sport
publication
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies
2020 |
First Faculty of Medicine
publication
Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cells
2015 |
First Faculty of Medicine
publication
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
2015 |
First Faculty of Medicine
publication
Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines
2015 |
First Faculty of Medicine
publication
We have a daughter or not? Androgen insensivity syndrome
2014 |
First Faculty of Medicine
publication
Novel Insight into Etiology, Diagnosis and Management of Primary Adrenal Insufficiency
2014 |
Second Faculty of Medicine
publication
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry
2021 |
First Faculty of Medicine
publication
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients
2021 |
First Faculty of Medicine
publication
Newborn screening for homocystinurias: Recent recommendations versus current practice
2019 |
First Faculty of Medicine, Faculty of Mathematics and Physics
publication
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry
2019 |
First Faculty of Medicine
publication
Epidemiology of rare diseases detected by newborn screening in the Czech Republic
2019 |
First Faculty of Medicine, Second Faculty of Medicine, Third Faculty of Medicine