Results 11 to 20 of about 48,814 (291)
Emphasized the diagnosis and therapy of curative neurogenetic diseases
Chinese Journal of Contemporary Neurology and Neurosurgery, 2021 In recent years, great progress has been made in the treatment of neurogenetic diseases. Specific drugs have been used to treat diseases that were uncurable in the past, and there are noteworthy curative effects.
ZHANG Cheng
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Atypical case of Wilson's disease with psychotic onset, low 24 hour urine copper and the absence of Kayser-Fleischer rings [PDF]
Vojnosanitetski Pregled, 2014 Introduction. Wilson's disease is typically manifested in two clinical forms, neurological and hepatic and in rare cases it starts with psychiatric symptoms exclusively. We presented a rare atypical case of Wilson's disease with psychotic onset.
Krstić Dragan +2 more
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Advances in quantitative MRI of hereditary myopathies
Chinese Journal of Contemporary Neurology and Neurosurgery, 2021 MRI can non⁃invasively show the muscles pathological change and damage pattern. It has taken an important role in myopathies diagnosis and research. The emergence of quantitative MRI (qMRI) technology and the advancement of post⁃processing methods can ...
LIANG Ying⁃yin +4 more
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Inborn Errors of Immunity and Cancer [PDF]
Biology, 2021 Inborn Errors of Immunity (IEI) are a heterogeneous group of disorders characterized by a defect in the function of at least one, and often more, components of the immune system. The aim of this narrative review is to discuss the epidemiology, the pathogenesis and the correct management of tumours in patients with IEI. PubMed was used to search for all
Tiri A. +7 more
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Neurodegeneration with Brain Iron Accumulation: Diagnosis and Management [PDF]
Journal of Movement Disorders, 2015 Neurodegeneration with brain iron accumulation (NBIA) encompasses a group of inherited disorders that share the clinical features of an extrapyramidal movement disorder accompanied by varying degrees of intellectual disability and abnormal iron ...
Penelope Hogarth
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Aspective et perspective dans la pensée égyptienne de l’histoire
Pallas, 2017 Aspective and perspective represent two conceptions of the world which at first sight seem incompatible, particularly where the passage of time is concerned : aspective and its predetermination would seem to preclude the very idea of history and ...
Christophe Barbotin
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Endocrinopathies in Inborn Errors of Immunity [PDF]
Frontiers in Immunology, 2021 Inborn errors of immunity (IEI), caused by hereditary or genetic defects, are a group of more than 400 disorders, in which the immune system, including lymphocytes, neutrophils, macrophages, and complements, does not function properly. The endocrine system is frequently affected by IEI as an associated clinical feature and a complex network of glands ...
Hirokazu Kanegane +3 more
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Journal of Laboratory Medicine, 2021 Next generation sequencing (NGS) technology has allowed cost-effective massive parallel DNA sequencing. To evaluate the utility of NGS for newborn screening (NBS) of inborn errors of metabolism (IEM), a custom panel was designed to target 87 disease ...
Tsang Kwok Yeung +5 more
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Orphanet Journal of Rare Diseases, 2023 Background Phenylketonuria (PKU) is a rare genetic metabolic disorder in which especially high phenylalanine (Phe) concentrations cause brain dysfunction.
Victor Maler +7 more
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Orphanet Journal of Rare Diseases, 2021 Background Cobalamin (cbl)-related remethylation disorders are a heterogeneous group of inherited disorders comprising the remethylation of homocysteine to methionine and affecting multiple organ systems, most prominently the nervous system and the bone ...
Amelie S. Lotz-Havla +6 more
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