5C56.1Ангилал
Neuronal ceroid lipofuscinosis
Тодорхойлолт
Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterised clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina.
Индексийн нэр томьёо Index terms · 62
Neuronal ceroid lipofuscinosiscerebromacular dystrophycerebromacular degenerationceroid-lipofuscinosisNCL - [neuronal ceroid lipofuscinosis]amaurotic familial idiocyamaurotic idiocyamaurotic idiotneuronal lipofuscinosisBatten diseasepigmentary retinal lipoid neuronal heredodegenerationCongenital neuronal ceroid lipofuscinosisCongenital NCL - [neuronal ceroid lipofuscinosis]Infantile neuronal ceroid lipofuscinosisHagberg-Santavuori diseaseSantavuori-Haltia diseaseSantavuori diseaseLysosomal palmitoyl protein thioesterase deficiencyInfantile NCL - [neuronal ceroid lipofuscinosis]infantile amaurotic familial diseaseinfantile cerebral lipidosisLate infantile neuronal ceroid lipofuscinosisJansky-Bielschowsky diseaseLysosomal pepstatin-insensitive peptidase deficiencyLINCL - [late infantile neuronal ceroid lipofuscinosis]Dollinger-Bielschowsky syndromeDollinger-Bielschowsky type neuronal ceroid lipofuscinosisamaurotic idiocy late infantile typelate familial amaurotic idiocyBielschowsky diseaseBielschowsky Jansky amaurotic idiocyBielschowsky Jansky amaurotic idiotBielschowsky Jansky type neuronal ceroid lipofuscinosisinfantile cerebrum lipidosisJuvenile neuronal ceroid lipofuscinosisSpielmeyer-Vogt diseaseLysosomal transmembrane CLN3 protein deficiencyBatten-Spielmeyer-Vogt diseaseJuvenile NCL - [neuronal ceroid lipofuscinosis]amaurotic idiocy early juvenile typeamaurotic idiocy juvenile typeBatten-Mayou diseaseBatten-Mayou syndromeSpielmeyer-Vogt type neuronal ceroid lipofuscinosisAdult neuronal ceroid lipofuscinosisKufs diseaseAdult NCL - [neuronal ceroid lipofuscinosis]adult-type amaurotic idiocyKufs type neuronal ceroid lipofuscinosisFinnish variant of late infantile neuronal ceroid lipofuscinosisProgressive epilepsy-intellectual deficit, Finnish typeCLN8 disease, Northern epilepsy variantNorthern epilepsyVariant late infantile neuronal ceroid lipofuscinosisNeuronal ceroid lipofuscinosis type 10CLN10 diseaseCathepsin D deficiencyCerebral lipidosescerebral lipidosiscerebrum lipidosisCerebral lipidosis myoclonic variantCerebroretinal lipidosis
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