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Inborn errors
Publication
Class
Person
Publication
Programmes
publication
Psychiatric manifestation of inborn errors of metabolism
2015 |
First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Elevated homocysteine levels: What inborn errors of metabolism might we be missing?
2023 |
First Faculty of Medicine
publication
Inborn Errors of Metabolism
2006 |
First Faculty of Medicine
publication
Tandem Mass Spectrometry - The Future of Newborn Screening of Inborn Errors of Metabolism
2003 |
Faculty of Physical Education and Sport
publication
Inborn errors of amino acid, organic acid metabolism and disorders of the urea cycle
2022 |
First Faculty of Medicine
publication
Inborn errors of metabolism of sacharides and lipids
Publication without faculty affiliation
publication
Inborn errors of metabolism with megaloblastic anemia
2005 |
First Faculty of Medicine
publication
Manifestations of cutaneous mycobacterial infections in patients with inborn errors of IL-12/IL-23-IFNγ immunity
2022 |
First Faculty of Medicine, Second Faculty of Medicine, Third Faculty of Medicine
publication
Characteristic clinical features and laboratory findings of inborn errors of metabolism
2018 |
First Faculty of Medicine
publication
Genomics Driving Diagnosis and Treatment of Inborn Errors of Immunity with Cancer Predisposition
2022 |
Second Faculty of Medicine
publication
Hematopoietic stem cell transplantation in children with inborn errors of metabolism and malignant infantile osteopetrosis
2022 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Gamma-glutamyl transferase activity in the amniotic fluid of fetuses with chromosomal aberrations and inborn errors of metabolism
1987 |
Second Faculty of Medicine
publication
Intensive care in children with inborn errors of metabolism
+1
Publication without faculty affiliation
publication
Diagnosis of Inborn Errors of Ketone Bodies Metabolism
Publication without faculty affiliation
publication
Risk Factors for Severe COVID-19 and Hospital Admission in Patients With Inborn Errors of Immunity - Results From a Multicenter Nationwide Study
2022 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Medicine in Pilsen, Faculty of Medicine in Hradec Králové
publication
Inborn errors of metabolism.
1997 |
Faculty of Physical Education and Sport
publication
Inborn Errors of Metabolism in Adults: Two Patients with Movement Disorders Caused by Glutaric Aciduria Type 1
2020 |
First Faculty of Medicine
publication
JAK-inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID and EBMT IEWP retrospective study
2024 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Medicine in Pilsen
publication
Inborn Errors of Metabolism with Megaloblastic Anemia
2005 |
First Faculty of Medicine
publication
Pitfalls in screening for inborn errors of metabolism (IEM)
+1
Publication without faculty affiliation
publication
Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia
2022 |
Second Faculty of Medicine
publication
Allergic manifestations of inborn errors of immunity and their impact on the diagnosis: A worldwide study
2022 |
Second Faculty of Medicine
publication
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19
2020 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Garrod's inborn errors of matabolism: Lessons from a defective heme pathway
Publication without faculty affiliation
publication
Care of patients with inborn errors of immunity in thirty J Project countries between 2004 and 2021
2022 |
Second Faculty of Medicine
publication
Tandem Mass Spectrometry - The Future of Newborn Screening of Inborn Errors of Metabolism
2003 |
First Faculty of Medicine
publication
Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children
2023 |
Second Faculty of Medicine
publication
Hematopoietic stem cell transplantation for Wiskott-Aldrich syndrome: an EBMT inborn errors working party analysis
2022 |
Second Faculty of Medicine