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Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late‐onset Tay‐Sachs disease.
- Published in:
- Journal of Inherited Metabolic Disease, 2024, v. 47, n. 2, p. 327, doi. 10.1002/jimd.12700
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- Article
Reply to Curtis, L. Comment on "Magner et al. Sulforaphane Treatment in Children with Autism: A Prospective Randomized Double-Blind Study. Nutrients 2023, 15 , 718".
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- Nutrients, 2024, v. 16, n. 5, p. 674, doi. 10.3390/nu16050674
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- Article
Adenotonsillar pathology in mucopolysaccharidoses – lysosomal storage predominates in paracortical CD63+ cells.
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- Virchows Archiv: European Journal of Pathology, 2024, v. 484, n. 1, p. 135, doi. 10.1007/s00428-023-03662-y
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- Article
B cell phenotype and serum levels of interferons, BAFF, and APRIL in multisystem inflammatory syndrome in children associated with COVID-19 (MIS-C).
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- Molecular & Cellular Pediatrics, 2023, v. 10, n. 1, p. 1, doi. 10.1186/s40348-023-00169-z
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- Article
Long-Term Evaluation of Biomarkers in the Czech Cohort of Gaucher Patients.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 19, p. 14440, doi. 10.3390/ijms241914440
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- Article
Sulforaphane Treatment in Children with Autism: A Prospective Randomized Double-Blind Study.
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- Nutrients, 2023, v. 15, n. 3, p. 718, doi. 10.3390/nu15030718
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- Publication type:
- Article
Tuberu spdyitida ebi Pttva ec reit iusti.
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- Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie, 2023, v. 78, n. 1, p. 20
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- Article
Čokoláda s obsahem sulforafanu.
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- Výživa a Potraviny, 2022, n. 6, p. 26
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- Article
Pitfalls of X‐chromosome inactivation testing in females with Fabry disease.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 1979, doi. 10.1002/ajmg.a.62728
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- Article
Transplantace kmenových buněk krvetvorby u dětí s dědičnými metabolickými poruchami a maligní infantilní osteopetrózou.
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- Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie, 2022, v. 77, n. 5, p. 276
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- Article
Hearing Loss in Patients With Morquio Syndrome: Protocol for a Scoping Review.
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- JMIR Research Protocols, 2022, v. 11, n. 6, p. 1, doi. 10.2196/32986
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- Article
Consensus statement on enzyme replacement therapy for mucopolysaccharidosis IVA in Central and South-Eastern European countries.
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- 2022
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- Publication type:
- journal article
Pontocerebellar atrophy is the hallmark neuroradiological finding in late-onset Tay-Sachs disease.
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- 2022
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- Publication type:
- journal article
The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers.
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- 2022
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- Publication type:
- journal article
Transient Hyperphosphatasemia in a Child with Autism Spectrum Disorder.
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- Acta Medica, 2022, v. 65, n. 1, p. 41, doi. 10.14712/18059694.2022.16
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- Article
Factors Influencing Sulforaphane Content in Broccoli Sprouts and Subsequent Sulforaphane Extraction.
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- Foods, 2021, v. 10, n. 8, p. 1927, doi. 10.3390/foods10081927
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- Article
GPD1 Deficiency – Underdiagnosed Cause of Liver Disease.
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- 2021
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- Publication type:
- Letter
The Phenotypic Spectrum of 47 Czech Patients with Single, Large-Scale Mitochondrial DNA Deletions.
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- Brain Sciences (2076-3425), 2020, v. 10, n. 11, p. 766, doi. 10.3390/brainsci10110766
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- Article
Associations between breastfeeding rates and infant disease: A survey of 2338 Czech children.
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- Nutrition & Dietetics, 2020, v. 77, n. 3, p. 310, doi. 10.1111/1747-0080.12532
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- Article
Fatal neonatal nephrocutaneous syndrome in 18 Roma children with EGFR deficiency.
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- Journal of Dermatology, 2020, v. 47, n. 6, p. 663, doi. 10.1111/1346-8138.15317
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- Publication type:
- Article
Amyotrophy, cerebellar impairment and psychiatric disease are the main symptoms in a cohort of 14 Czech patients with the late-onset form of Tay–Sachs disease.
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- Journal of Neurology, 2019, v. 266, n. 8, p. 1953, doi. 10.1007/s00415-019-09364-3
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- Article
Sideroblastic anemia associated with multisystem mitochondrial disorders.
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- 2019
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- journal article
The Age Dependent Progression of Hajdu-Cheney Syndrome in Two Families.
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- Prague Medical Report, 2018, v. 119, n. 4, p. 156, doi. 10.14712/23362936.2019.3
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- Publication type:
- Article
Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature.
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- 2017
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- Publication type:
- journal article
Late-presenting congenital diaphragmatic hernia in a child with TMEM70 deficiency.
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- Congenital Anomalies, 2017, v. 57, n. 2, p. 64, doi. 10.1111/cga.12194
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- Publication type:
- Article
PSYCHIATRICKÁ MANIFESTACE DĚDIČNÝCH METABOLICKÝCH PORUCH.
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- Ceská a Slovenská Psychiatrie, 2015, v. 111, n. 6, p. 295
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- Article
CLINICAL MANIFESTATION OF MITOCHONDRIAL DISEASES.
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- Developmental Period Medicine, 2015, v. 19, n. 4, p. 441
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- Article
TMEM70 deficiency: long-term outcome of 48 patients.
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- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 3, p. 417, doi. 10.1007/s10545-014-9774-8
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- Article
Erratum to: TMEM70 deficiency: long-term outcome of 48 patients.
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- 2015
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- Publication type:
- Erratum
Zaburzenia psychiczne u pięciu pacjentów cierpiących na zespół MELAS.
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- Psychiatria Polska, 2014, v. 48, n. 5, p. 1035
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- Article
Novel FBN1 gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1559, doi. 10.1002/ajmg.a.36480
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- Article
Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis.
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- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 5, p. 749, doi. 10.1007/s10545-011-9440-3
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- Article
Vascular presentation of cystathionine beta-synthase deficiency in adulthood.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 1, p. 33, doi. 10.1007/s10545-010-9146-y
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- Publication type:
- Article
Ultrastructural and functional abnormalities of mitochondria in cultivated fibroblasts from α-mannosidosis patients.
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- Biologia, 2009, v. 64, n. 2, p. 394, doi. 10.2478/s11756-009-0054-2
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- Article
Mitochondrial DNA Haplogroups in the Czech Population Compared to Other European Countries.
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- Human Biology, 2008, v. 80, n. 6, p. 669
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- Article
TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy.
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- Nature Genetics, 2008, v. 40, n. 11, p. 1288, doi. 10.1038/ng.246
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- Article