79454-5

Alpha fucosidase [Enzymatic activity/volume] in DBS

Active

Part Description

LP14334-4 Alpha fucosidase
Tissue alpha-L-fucosidase is an enzyme that in humans is encoded by the FUCA1 gene. Alpha-Fucosidase is an enzyme that breaks down fucose.
Fucosidosis is an autosomal recessive lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues. Different phenotypes include clinical features such as neurologic deterioration, growth retardation, visceromegaly, and seizures in a severe early form; coarse facial features, angiokeratoma corporis diffusum, spasticity and delayed psychomotor development in a longer surviving form; and an unusual spondylometaphyseoepiphyseal dysplasia in yet another form. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Alpha fucosidase (Wikipedia)

LOINC Names Get Info

Fully-Specified Name: Alpha fucosidase:CCnc:Pt:Bld.dot:Qn:
Long Common Name: Alpha fucosidase [Enzymatic activity/volume] in DBS
Short Name: A-Fucosidase DBS-cCnc
Display Name: Alpha fucosidase (DBS) [Catalytic activity/Vol]
Consumer Name Alpha Get Info: Alpha fucosidase, Dried blood spot

Part Model Get Info

Component
Alpha fucosidase
LP14334-4
- Analyte
  Alpha fucosidase
  LP14334-4
  - Component Numerator
    Alpha fucosidase
    LP14334-4
    - Component Numerator Core
      Alpha fucosidase
      LP14334-4
    - Component Numerator Core Suffix
      NULL
  - Component Denominator
    NULL
    - Component Denominator Core
      NULL
    - Component Denominator Core Suffix
      NULL
- Challenge
  NULL
- Adjustment
  NULL
- Count
  NULL
Property
CCnc
LP6789-4
Time
Pt
LP6960-1
- Time Core
  Pt
  LP6960-1
- Time Modifier
  NULL
System
Bld.dot
LP21304-8
- System Core
  Bld.dot
  LP21304-8
- Super System
  NULL
Scale
Qn
LP7753-9
Method
NULL

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.54
Last Updated: Version 2.61 (MIN)
Order vs. Observation: Both

Language Variants Get Info

Tag	Language	Translation
cs-CZ	Czech (Czechia)	Alfa-fukosidáza:Katalytická koncentrace:Časový bod:Suchá krevní kapka (DBS):Kvantitativní:
el-GR	Greek (Greece)	Άλφα φουκοσιδάση:CCnc:Pt:Bld.dot:Qn: Synonyms: Bld.dot CCnc CHEM Pt Qn Αίμα Άλφα φουκοσιδάση
es-MX	Spanish (Mexico)	Alfa fucosidasa:Concentración catalítica:Punto temporal:DBS:Cuantitativo:
es-ES	Spanish (Spain)	Alfa fucosidasa:Concentración Catalítica:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
et-EE	Estonian (Estonia)	Alfafukosidaas:CCnc:Pt:Vereplekk:Qn: Synonyms: Juhuslik Kvantitatiivne Veri
fr-CA	French (Canada)	Alpha-fucosidase:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
fr-FR	French (France)	Alpha fucosidase:Catalytique/Volume:Ponctuel:Sang buvard:Numérique:
fr-BE	French (Belgium)	Alpha-fucosidase:Concentration catalytique:Temps ponctuel:Sang sur papier filtre:Quantitatif:
it-IT	Italian (Italy)	Alfa fucosidasi:CCnC:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	alfa-fucosidase:enzymatische activiteit/volume:moment:gedroogde bloedspot:kwantitatief:
pl-PL	Polish (Poland)	Alfa fukozydaza:stężenie katalityczne:punkt w czasie:sucha kropla krwi:ilościowy: Synonyms: Alfa-fukozydaza
ru-RU	Russian (Russian Federation)	Альфа фукозидаза:КаталКонц:ТчкВрм:Кр.Сух.капл:Колич: Synonyms: Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени;Момент
tr-TR	Turkish (Turkey)	Alfa fukozidaz:KtlKons:Zmlı:Kan.nokta:Kant:
zh-CN	Chinese (China)	Alpha 岩藻糖苷酶:催化浓度:时间点:全血.斑点:定量型: Synonyms: Alpha-L-岩藻糖苷酶;Alpha-岩藻糖苷酶;A-L-岩藻糖苷酶;A-岩藻糖苷酶;α-L-岩藻糖苷酶;α岩藻糖苷酶;α-岩藻糖苷酶;墨角藻糖苷酶缺乏病;岩藻糖苷病 α 催化浓度(单位体积);单位体积内酶的单位数全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间血;血液阿尔法

Example Units

Unit	Source
nmol/h/mL	Example UCUM Units

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LOINC Copyright

Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.