نتائج البحث

Lyso-Gb3 associates with adverse long-term outcome in patients with Fabry disease

• Authors : Felix Beuschlein; David C. Kasper; Visnuka Sivasubramaniam ...

Subjects: Male; 2716 Genetics (clinical); medicine.medical_specialty

• Source: Journal of Medical Genetics. 59:287-293

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Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria

• Authors : Tanja Plessl; Céline Bürer; Caroline Frei ...

Subjects: 2716 Genetics (clinical); 610 Medicine & health; Cobalamin

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Rapid, proteomic urine assay for monitoring progressive organ disease in Fabry disease

• Authors : Justyna Śpiewak; Ivan Doykov; Kevin Mills ...

Subjects: Male; Proteomics; 0301 basic medicine

• Source: Journal of Medical Genetics. 57:38-47

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Analysis of the Qatari R336C cystathionine β‐synthase protein in mice

• Authors : Gheyath K. Nasrallah; Tawfeg Ben-Omran; Sapna Gupta ...

Subjects: Male; Homocysteine; DNA Mutational Analysis

• Source: Gupta, S, Gallego-Villar, L, Wang, L, Lee, H-O, Nasrallah, G, Al-Dewik, N, Häberle, J, Thöny, B, Blom, H J, Ben-Omran, T & Kruger, W D 2019, ' Analysis of the Qatari R336C cystathionine β-synthase

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Homocystinuria patient and caregiver survey: experiences of diagnosis and patient satisfaction

• Authors : F Bösch; T Morrison; Andrew A. M. Morris ...

Subjects: Pediatrics; medicine.medical_specialty; 2716 Genetics (clinical)

• Source: Orphanet Journal of Rare DiseasesOrphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-12 (2021)

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Myoglobin for Detection of High-Risk Patients with Acute Myocarditis

• Authors : Nora Baltensperger; Bettina Heidecker; Marina Lovrinovic ...

Subjects: 0301 basic medicine; Male; 3003 Pharmaceutical Science

• Source: Journal of Cardiovascular Translational Research

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Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation

• Authors : Ira Benkel; Argirios Dinopoulos; Eugen Boltshauser ...

Subjects: 0301 basic medicine; 2716 Genetics (clinical); early infantile epileptic encephalopathy-50

• Source: Genetics in Medicine, 22(10), 1589-1597. Nature Publishing GroupGenetics in Medicine, 22, 10, pp. 1589-1597

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Food as a trigger for abdominal angioedema attacks in patients with hereditary angioedema

• Authors : Lea Kölliker; Arthur Helbling; Walter A. Wuillemin ...

Subjects: Male; 0301 basic medicine; Allergy

• Source: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-8 (2018)Orphanet Journal of Rare Diseases

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Fabry disease genotype, phenotype and migalastat amenability: insights from a national cohort

• Authors : Felix Beuschlein; Albina Nowak; Frédéric Barbey ...

Subjects: Adult; Male; medicine.medical_specialty

• Source: Nowak, Albina; Huynh-Do, Uyen; Krayenbuehl, Pierre-Alexandre; Beuschlein, Felix; Schiffmann, Raphael; Barbey, Frédéric (2019). Fabry disease genotype, phenotype, and migalastat amenability: Insights

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CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects

• Authors : Anita Rauch; Nathalie Pouvreau; Séverine Drunat ...

Subjects: Microcephaly; Pathology; medicine.medical_specialty

• Source: Journal of Medical GeneticsJournal of Medical Genetics, BMJ Publishing Group, 2020, pp.jmedgenet-2019-106474.

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