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[An anesthetic experience of a patient with Lowe's syndrome (author's transl)]. 1979

H Ishihara, and T Nakamura, and M Matsui, and A Maeda, and A Matsuki, and T Oyama

UI MeSH Term Description Entries
D008297 Male Males
D009800 Oculocerebrorenal Syndrome A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, and the KIDNEY. Clinical features include congenital CATARACT; MENTAL RETARDATION; and renal tubular dysfunction (FANCONI SYNDROME; RENAL TUBULAR ACIDOSIS; X-LINKED HYPOPHOSPHATEMIA or vitamin-D-resistant rickets) and SCOLIOSIS. This condition is due to a deficiency of phosphatidylinositol 4,5-bisphosphate-5-phosphatase leading to defects in PHOSPHATIDYLINOSITOL metabolism and INOSITOL signaling pathway. (from Menkes, Textbook of Child Neurology, 5th ed, p60; Am J Hum Genet 1997 Jun;60(6):1384-8) Cerebrooculorenal Syndrome,Lowe Syndrome,Cerebro-Oculo-Renal Syndrome,Lowe Disease,Lowe Oculocerebrorenal Syndrome,Lowe-Bickel Syndrome,Lowe-Terrey-MacLachlan Syndrome,Oculocerebrorenal Dystrophy,Oculocerebrorenal Syndrome of Lowe,Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency,Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency,Renal-Oculocerebrodystrophy,Cerebro Oculo Renal Syndrome,Deficiency, Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase,Dystrophy, Oculocerebrorenal,Lowe Bickel Syndrome,Lowe Terrey MacLachlan Syndrome,Phosphatidylinositol 4,5 Bisphosphate 5 Phosphatase Deficiency,Renal Oculocerebrodystrophy
D002387 Cataract Extraction The removal of a cataractous CRYSTALLINE LENS from the eye. Enzymatic Zonulolysis,Phakectomy,Cataract Extractions,Enzymatic Zonulolyses,Extraction, Cataract,Extractions, Cataract,Phakectomies,Zonulolyses, Enzymatic,Zonulolysis, Enzymatic
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000758 Anesthesia A state characterized by loss of feeling or sensation. This depression of nerve function is usually the result of pharmacologic action and is induced to allow performance of surgery or other painful procedures.
D015499 Renal Tubular Transport, Inborn Errors Genetic defects in the selective or non-selective transport functions of the KIDNEY TUBULES. Kidney Tubular Transport, Inborn Errors,Kidney Tubular Transport, Inborn Error,Renal Tubular Transport Errors,Renal Tubular Transport, Inborn Error

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