A novel homozygous GALC mutation: Very early onset and rapidly progressive Krabbe disease

Gene ◽  
2013 ◽  
Vol 517 (1) ◽  
pp. 125-127 ◽  
Author(s):  
Fatih Kardas ◽  
Asli Subasioglu Uzak ◽  
Mohammad Arif Hossain ◽  
Norio Sakai ◽  
Mehmet Canpolat ◽  
...  
Keyword(s):  
Early Onset ◽  
Krabbe Disease

Sixth Cranial Nerve Involvement in Early Onset Krabbe Disease

2020 ◽  
Vol 51 (04) ◽  
pp. 307-308
Author(s):  
Miguel Quintas-Neves ◽  
Sofia Almeida Xavier ◽  
João Paulo Soares-Fernandes
Keyword(s):  
Early Onset ◽  
Cranial Nerve ◽  
Krabbe Disease ◽  
Cranial Nerve Involvement ◽  
Sixth Cranial Nerve ◽  
Nerve Involvement

scholarly journals Krabbe disease: the importance of early diagnosis for prognosis

2012 ◽  
Vol 10 (2) ◽  
pp. 233-235 ◽  
Author(s):  
Tatiana Suemi Sano
Keyword(s):  
Early Diagnosis ◽  
Early Onset ◽  
Late Onset ◽  
Krabbe Disease ◽  
Globoid Cell Leukodystrophy ◽  
Nervous Systems ◽  
Clinical Forms ◽  
Peripheral Nervous Systems ◽  
Globoid Cell

Krabbe disease (globoid cell leukodystrophy) is an inherited recessive autosomal leukodystrophy caused by deficiency of the enzyme galactocerebrosidase. The lack of this enzyme leads to the build-up of galactolipids that will promote the death of oligodendrocytes and the demyelination of the central and peripheral nervous systems. There are two clinical forms: early onset and late onset. This article reports a case of late onset Krabbe disease and discusses the importance of early diagnosis for its prognosis.

scholarly journals Cystic changes in internal capsule in early-onset Krabbe disease

2014 ◽  
Vol 2 (4) ◽  
pp. 124-125
Author(s):  
Arushi Gahlot Saini ◽  
Renu Suthar ◽  
Naveen Sankhyan ◽  
Pratibha Singhi ◽  
Sameer Vyas
Keyword(s):  
Early Onset ◽  
Internal Capsule ◽  
Krabbe Disease ◽  
Cystic Changes

Deletion of exons 11-17 and novel mutations of the galactocerebrosidase gene in adult- and early-onset patients with Krabbe disease

2000 ◽  
Vol 247 (11) ◽  
pp. 875-877 ◽  
Author(s):  
S. Selleri ◽  
E. Torchiana ◽  
D. Pareyson ◽  
L. Lulli ◽  
B Bertagnolio ◽  
...  
Keyword(s):  
Early Onset ◽  
Krabbe Disease ◽  
Novel Mutations

Normal Neuroimaging in Early-Onset Krabbe Disease

2011 ◽  
Vol 44 (5) ◽  
pp. 374-376 ◽  
Author(s):  
Mahesh Kamate ◽  
Virupaxi Hattiholi
Keyword(s):  
Early Onset ◽  
Krabbe Disease

Association of vitamin D receptor genotypes with early onset rheumatoid arthritis

2001 ◽  
Vol 28 (1) ◽  
pp. 89-93 ◽  
Author(s):  
J. R. Garcia-Lozano ◽  
M. F. Gonzalez-Escribano ◽  
A. Valenzuela ◽  
A. Garcia ◽  
A. Nunez-Roldan
Keyword(s):  
Rheumatoid Arthritis ◽  
Vitamin D ◽  
Vitamin D Receptor ◽  
Early Onset
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