英语词汇“Lowe-Bickel Syndrome”的意思、用法、释义、翻译、读音、例句、短语、词组-英汉翻译词典

《英文msh词典》Lowe-Bickel Syndrome

[入口词] Lowe-Bickel Syndrome

[主题词] Oculocerebrorenal Syndrome

[英文释义] A sex-linked recessive disorder of amino acid transport which affects the EYE; NERVOUS SYSTEM; and KIDNEY. Clinical manifestations include CATARACT; GLAUCOMA; developmental delay (which eventually leads to profound cognitive deficits); myopathy; peripheral neuropathy; and hypotonia. There is an associated generalized aminoaciduria of the FANCONI SYNDROME type; renal tubular acidosis (ADIDOSIS,RENAL TUBULAR); and hypophosphatemic RICKETS. This condition has been associated with deficient activity of the enzyme phosphatidylinositol 4,5-bisphosphate-5-phosphatase. (Menkes,Textbook of Child Neurology,5th ed,p60; Am J Hum Genet 1997 Jun;60(6):1384-8)

单词	Lowe-Bickel Syndrome
释义	Lowe-Bickel Syndrome 《英文msh词典》Lowe-Bickel Syndrome [入口词] Lowe-Bickel Syndrome [主题词] Oculocerebrorenal Syndrome [英文释义] A sex-linked recessive disorder of amino acid transport which affects the EYE; NERVOUS SYSTEM; and KIDNEY. Clinical manifestations include CATARACT; GLAUCOMA; developmental delay (which eventually leads to profound cognitive deficits); myopathy; peripheral neuropathy; and hypotonia. There is an associated generalized aminoaciduria of the FANCONI SYNDROME type; renal tubular acidosis (ADIDOSIS,RENAL TUBULAR); and hypophosphatemic RICKETS. This condition has been associated with deficient activity of the enzyme phosphatidylinositol 4,5-bisphosphate-5-phosphatase. (Menkes,Textbook of Child Neurology,5th ed,p60; Am J Hum Genet 1997 Jun;60(6):1384-8)
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