Krabbe disease - Wikipedia
Krabbe disease (KD) (also known as globoid cell leukodystrophy[3] or galactosylceramide lipidosis) is a rare and often fatal lysosomal storage disease that results in progressive damage to the nervous system. KD involves dysfunctional metabolism of sphingolipids and is inherited in an autosomal recessive pattern.
球形细胞脑白质营养不良 - 百度百科
球形细胞脑白质营养不良(globoid cell leukodystrophy)又名Krabbe氏病，是常染色体隐性遗传病，其基本代谢缺陷是半乳糖脑苷脂-β-半乳糖苷酶的缺乏，致使半乳糖脑苷脂蓄积于脑内。
Krabbe Disease (Globoid Cell Leukodystrophy) - Cleveland Clinic
2022年8月13日 · Krabbe disease (also called globoid cell leukodystrophy) is a rare, inherited neurological condition that gets worse over time. It usually results in death.
Krabbe disease - MedlinePlus
Krabbe disease (also called globoid cell leukodystrophy) is a severe neurological condition. It is part of a group of disorders known as leukodystrophies, which result from the loss of myelin (demyelination) in the nervous system.
A neglected neurodegenerative disease: Adult-onset globoid cell ...
2022年9月6日 · Globoid cell leukodystrophy (GLD), or Krabbe disease (KD), is a rare neurodegenerative disorder of the nervous system caused by autosomal-recessive lysosomal dysfunction.
Globoid cell leukodystrophy (Krabbe's disease): update
The classic globoid cell leukodystrophy (Krabbe's disease) is caused by genetic defects in a lysosomal enzyme, galactosylceramidase. It is one of the two classic genetic leukodystrophies, together with metachromatic leukodystrophy.
Identifying altered developmental pathways in human globoid cell ...
2023年4月19日 · Globoid cell leukodystrophy (GLD), also known as Krabbe disease, is a lysosomal storage disease that is triggered by a deficit of the lysosomal enzyme galactosylceramidase (GALC) and is characterized by psychosine (PSY) accumulation in the nervous system .
Human iPSC-based neurodevelopmental models of globoid cell ... - PubMed
2021年6月8日 · Globoid cell leukodystrophy (GLD) is a rare neurodegenerative lysosomal storage disease caused by an inherited deficiency of β-galactocerebrosidase (GALC). GLD pathogenesis and therapeutic correction have been poorly studied in patient neural cells. Here, we investigated the impact of GALC deficienc …
Krabbe disease: New hope for an old disease - PubMed
2021年5月1日 · Krabbe disease (globoid cell leukodystrophy) is a lysosomal storage disease (LSD) characterized by progressive and profound demyelination. Infantile, juvenile and adult-onset forms of Krabbe disease have been described, with infantile being the most common.
Krabbe Disease: Background, Pathophysiology, Epidemiology - Medscape
2019年12月18日 · Krabbe disease, also known as globoid cell leukodystrophy or galactosylceramide lipidosis, is an autosomal-recessive sphingolipidosis caused by deficient activity of the lysosomal hydrolase...
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