Results 1 to 10 of about 104,643 (290)
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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Survey of Italian pediatricians on awareness, experiences and beliefs regarding direct-to-consumer genetic testing in minors [PDF]
, 2019 Background: Our study wanted to assess Italian pediatricians’ awareness, experience and beliefs regarding directto- consumer (DTC) genetic tests (GT) in minors, with a focus on those for predisposition to complex disease, lyfestyle, athletic ability and ...
Baroncini A +3 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
doaj +1 more source
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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Clinical biological and genetic heterogeneity of the inborn errors of pulmonary surfactant metabolism [PDF]
, 2001 Pulmonary surfactant is a multimolecular complex located at the air-water interface within the alveolus to which a range of physical (surface-active properties) and immune functions has been assigned. This complex consists of a surface-active lipid layer
Clements JA +29 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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Indications for pediatric liver transplantation [PDF]
, 1987 Two hundred fifty pediatric (
Andreas G. Tzakis +21 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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