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  • GM2-Gangliosidosis, AB Variant: Clinical, Ophthalmological . . . - Springer
    GM2-gangliosidosis, AB variant is a very rare form of GM2 gangliosidosis due to a deficiency of GM2 activator protein, associated with autosomal recessive mutations in GM2A Less than ten patients, confirmed by molecular analysis, have been described in the literature A 12-month-old Hmong girl presented to the neurometabolic clinic for evaluation of global developmental delay, hypotonia, and
  • Characterization of a phenotypically severe animal model for human AB . . .
    AB-Variant GM2 gangliosidosis (ABGM2) is a rare and lethal genetic disorder caused by mutations in the GM2A gene that lead to fatal accumulation of GM2 gangliosides (GM2) in neurons of the central nervous system (CNS) GM2A encodes a transport protein known as GM2 activator (GM2A) protein, which is essential for degrading GM2 into their GM3 form ABGM2 presents in infantile-, juvenile-, and
  • Multimodal optical imaging and genetic features of AB variant GM2 . . .
    Conclusions AB variant GM2 gangliosidosis is a rare disease affecting multiple nervous systems Before the occurrence of typical neurological symptoms, the clinical features of fundus photography and OCT help us diagnose GM2 gangliosidosis
  • GM2 gangliosidoses - Wikipedia
    AB variant GM2-gangliosidosis, AB variant is a rare, autosomal recessive metabolic disorder that causes progressive destruction of nerve cells in the brain and spinal cord Mutations in the GM2A gene cause AB variant The GM2A gene provides instructions for making a protein called the GM2 activator
  • GM2-Gangliosidosis, AB Variant: Clinical, Ophthalmological, MRI, and . . .
    GM2-gangliosidosis, AB variant is a very rare form of GM2 gangliosidosis due to a deficiency of GM2 activator protein, associated with autosomal recessive mutations in GM2A Less than ten patients, confirmed by molecular analysis, have been described in the literature A 12-month-old Hmong girl presented to the neurometabolic clinic for evaluation of global developmental delay, hypotonia, and
  • GM2 Gangliosidosis AB Variant: A Hidden Truth - PubMed
    GM2 gangliosidosis AB variant (GM2AB) is a rare neurodegenerative lysosomal storage disorder with clinical features resembling Tay-Sachs disease but characterized by normal lysosomal β-hexosaminidase A enzyme activity To date, only 14 cases of the acute infantile form have been reported To the bes …
  • GM2-Gangliosidosis, AB variant - illness. com
    Overview Of GM2-Gangliosidosis, AB variant AB variant GM2-gangliosidosis is a rare hereditary disorder, that systematically destroys nerve cells neurons in the central nervous system (CNS) The central nervous system consists of both the brain and spinal cord
  • What Is GM2 Gangliosidosis? - iCliniq
    GM2 gangliosidosis belongs to a group of disorders known as lysosomal storage diseases, which are caused by defects in the body's ability to break down and recycle certain substances within cells There are three subtypes of GM2 gangliosidosis: Tay-Sachs disease, Sandhoff disease, and AB variant GM2 gangliosidosis
  • GM2A antibody Western, ELISA SAB1409128 SAp-3
    Mutations in this gene result in GM2-gangliosidosis type AB or the AB variant of Tay-Sachs disease (provided by RefSeq)
  • GM2 gangliosidosis AB variant: first case of late onset and . . . - Springer
    AB variant is the rarest form of GM2 gangliosidosis, neurodegenerative diseases caused by lysosomal accumulation of GM2 gangliosides Less than thirty cases are referenced in the literature, and to date, no late-onset form has been described Our proband is a 22-year-old male with spinocerebellar ataxia and lower limbs motor deficiency His symptoms started at the age of 10 A genetic analysis
  • Multimodal optical imaging and genetic features of AB variant GM2 . . .
    AB variant GM2 gangliosidosis is a rare disease affecting multiple nervous systems Before the occurrence of typical neurological symptoms, the clinical features of fundus photography and OCT help us diagnose GM2 gangliosidosis
  • GM2 gangliosidosis AB variant: clinical and biochemical studies of a . . .
    The clinical features and biochemical basis of this Japanese patient with GM2 gangliosidosis AB variant were determined Immunocytochemical analysis using cultured fibroblasts as samples is available for the diagnosis of this disease





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