Results 11 to 20 of about 63,582 (298)
, 2019 Inborn errors of metabolism, also known as inherited metabolic diseases, constitute an important group of conditions presenting with neurologic signs in newborns. They are individually rare but collectively common. Many are treatable through restoration of homeostasis of a disrupted metabolic pathway.
Ferreira, Carlos R. +1 more
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, 2016 Inborn errors of metabolism are single gene disorders resulting from the defects in the biochemical pathways of the body. Although these disorders are individually rare, collectively they account for a significant portion of childhood disability and deaths.
Ezgu, FATİH SÜHEYL, Fatih Ezgu
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Cahiers d'études africaines, 2014 Le saxophoniste Albert Ayler enregistre en 1969 « Masonic Inborn », une longue et intense improvisation à la cornemuse. C’est, à notre connaissance, le seul titre de l’histoire du jazz faisant ouvertement référence à la tradition maçonnique. Cette rareté ne doit pourtant pas occulter que le fait maçonnique demeure un sujet passionnant et méconnu de l ...
Imbert, Raphaël
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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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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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A proposed nosology of inborn errors of metabolism [PDF]
, 2018 Purpose: We propose a nosology for inborn errors of metabolism that builds on their recent redefinition. Methods: We established a strict definition of criteria to develop a self-consistent schema for inclusion of a disorder into the nosology.
Ferreira, Carlos R. +9 more
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Inborn Errors of Purine Salvage and Catabolism [PDF]
, 2023 Cellular purine nucleotides derive mainly from de novo synthesis or nucleic acid turnover and, only marginally, from dietary intake. They are subjected to catabolism, eventually forming uric acid in humans, while bases and nucleosides may be converted ...
Simone Allegrini +13 more
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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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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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