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|[[wikipedia:ASAH1|Ceramidase]] | |[[wikipedia:ASAH1|Ceramidase]] | ||
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| | |[[wikipedia:ja:乳児型(I型)神経セロイドリポフスチノーシス|乳児型(I型)神経セロイドリポフスチノーシス]]([[wikipedia:Infantile neuronal ceroid lipofuscinosis|Infantile neuronal ceroid lipofuscinosis (NCL)]]、[[wikipedia:Santavuori-Haltia disease|Santavuori-Haltia disease]]) | ||
|[[wikipedia:PPT1|Palmitoyl-protein thioesterase 1]] | |[[wikipedia:PPT1|Palmitoyl-protein thioesterase 1]] | ||
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|幼児型(II型)神経セロイドリポフスチノーシス([[wikipedia:Infantile neuronal ceroid lipofuscinosis|Late Infantile NCL]]、[[wikipedia:Jansky-Bielschowsky disease|Jansky-Bielschowsky disease]]) | |[[wikipedia:ja:幼児型(II型)神経セロイドリポフスチノーシス|幼児型(II型)神経セロイドリポフスチノーシス]]([[wikipedia:Infantile neuronal ceroid lipofuscinosis|Late Infantile NCL]]、[[wikipedia:Jansky-Bielschowsky disease|Jansky-Bielschowsky disease]]) | ||
|[[wikipedia:Tripeptidyl peptidase I|Tripeptidyl peptidase 1]] | |[[wikipedia:Tripeptidyl peptidase I|Tripeptidyl peptidase 1]] | ||
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|若年型(III型)神経セロイドリポフスチノーシス([[wikipedia:Infantile neuronal ceroid lipofuscinosis|Juvenile NCL]]、[[wikipedia:Spielmeyer-Vogt-Sjögren-Batten disease|Spielmeyer-Vogt-Sjögren-Batten disease]]) | |[[wikipedia:ja:若年型(III型)神経セロイドリポフスチノーシス|若年型(III型)神経セロイドリポフスチノーシス]]([[wikipedia:Infantile neuronal ceroid lipofuscinosis|Juvenile NCL]]、[[wikipedia:Spielmeyer-Vogt-Sjögren-Batten disease|Spielmeyer-Vogt-Sjögren-Batten disease]]) | ||
|[[wikipedia:CLN3|CLN3]] | |[[wikipedia:CLN3|CLN3]] | ||
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|成人型(IV型)神経セロイドリポフスチノーシス([[wikipedia:Infantile neuronal ceroid lipofuscinosis|Adult NCL]]、[[wikipedia:Kufs disease|Kufs disease]]、[[wikipedia:Parry's disase|Parry's disase]]) | |[[wikipedia:ja:成人型(IV型)神経セロイドリポフスチノーシス|成人型(IV型)神経セロイドリポフスチノーシス]]([[wikipedia:Infantile neuronal ceroid lipofuscinosis|Adult NCL]]、[[wikipedia:Kufs disease|Kufs disease]]、[[wikipedia:Parry's disase|Parry's disase]]) | ||
|[[wikipedia:CLN6|CLN6]]、[[wikipedia:DNAJC5|HSP40]] | |[[wikipedia:CLN6|CLN6]]、[[wikipedia:DNAJC5|HSP40]] | ||
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| rowspan="4" | '''トランスポーター機能の障害''' | | rowspan="4" | '''トランスポーター機能の障害''' | ||
|[[wikipedia:ja:ムコ脂質症Ⅳ型 | |[[wikipedia:ja:ムコ脂質症Ⅳ型|ムコ脂質症IV型]]([[wikipedia:Mucolipidosis|Mucolipidosis]] type 4) | ||
|[[wikipedia:MCOLN1|Mucolipin 1]] | |[[wikipedia:MCOLN1|Mucolipin 1]] | ||
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