Search Results - "Leukodystrophy"

Saposin B Deficiency With Neurologic and Hepatobiliary Involvement: Two Patients Expanding the Clinical Spectrum.

Authors: Yoldas Celik M Koc Ucar H Köseci B et al.

Source: Journal of child neurology [J Child Neurol] 2026 Aug; Vol. 41 (7), pp. 1014-1019. Date of Electronic Publication: 2025 Dec 03.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Sage Country of Publication: United States NLM ID: 8606714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1708-8283 (Electronic) Linking ISSN: 08830738 NLM ISO Abbreviation: J Child Neurol Subsets: MEDLINE

Spectrum of ARSA mutations in Iranian patients with metachromatic leukodystrophy.

Authors: Fathi M Khalilian S Miryounesi M et al.

Source: Biochemical genetics [Biochem Genet] 2026 Feb; Vol. 64 (1), pp. 186-196. Date of Electronic Publication: 2025 Jan 13.

Publication Type: Journal Article

Journal Info: Publisher: Kluwer Academic/Plenum Publishers Country of Publication: United States NLM ID: 0126611 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-4927 (Electronic) Linking ISSN: 00062928 NLM ISO Abbreviation: Biochem Genet Subsets: MEDLINE

Chorea in Hereditary Leukodystrophies - Overview of Two Cases.

Authors: Milovanović A Ječmenica-Lukić M Mazalica N et al.

Source: Tremor and other hyperkinetic movements (New York, N.Y.) [Tremor Other Hyperkinet Mov (N Y)] 2025 Dec 11; Vol. 15, pp. 62. Date of Electronic Publication: 2025 Dec 11 (Print Publication: 2025).

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Ubiquity Press Country of Publication: England NLM ID: 101569493 Publication Model: eCollection Cited Medium: Internet ISSN: 2160-8288 (Electronic) Linking ISSN: 21608288 NLM ISO Abbreviation: Tremor Other Hyperkinet Mov (N Y) Subsets: MEDLINE

Genetic and Clinical Characteristics of Chinese Adult Patients With Krabbe Disease.

Authors: Zhang Y Huang HF Xie JJ et al.

Source: CNS neuroscience & therapeutics [CNS Neurosci Ther] 2025 Dec; Vol. 31 (12), pp. e70708.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101473265 Publication Model: Print Cited Medium: Internet ISSN: 1755-5949 (Electronic) Linking ISSN: 17555930 NLM ISO Abbreviation: CNS Neurosci Ther Subsets: MEDLINE

Validating a Human Cell Model of Null Galactosylceramidase (GALC) Enzyme Activity That Recapitulates Krabbe Disease.

Authors: Starosta RT Khatoon N Roberts MS et al.

Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2026 Jul; Vol. 49 (4), pp. e70212.

Publication Type: Journal Article

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Brachial plexopathy in juvenile-onset Krabbe disease: A rare case.

Authors: Upadhyaya V Bansal K

Source: Skeletal radiology [Skeletal Radiol] 2026 Jun; Vol. 55 (6), pp. 1421-1424. Date of Electronic Publication: 2026 Feb 09.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7701953 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-2161 (Electronic) Linking ISSN: 03642348 NLM ISO Abbreviation: Skeletal Radiol Subsets: MEDLINE

Healthcare utilization and disease burden in children with metachromatic leukodystrophy in Germany.

Authors: Kehrer C Bevot A Martin P et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2025 May 23; Vol. 20 (1), pp. 242. Date of Electronic Publication: 2025 May 23.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Blood Biomarkers Reflecting Brain Pathology-From Common Grounds to Rare Frontiers.

Authors: Weinhofer I Rommer P Berger J

Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2025 May; Vol. 48 (3), pp. e70032.

Publication Type: Journal Article; Review

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Spatially resolved lipids in a mouse brain model of globoid cell leukodystrophy via IR-MALDESI MSI and parallel reaction monitoring MSI.

Authors: Hunter SN Wang MF Thomas BN et al.

Source: Analytical and bioanalytical chemistry [Anal Bioanal Chem] 2026 Apr; Vol. 418 (7), pp. 1973-1986. Date of Electronic Publication: 2026 Jan 23.

Publication Type: Journal Article

Journal Info: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 101134327 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1618-2650 (Electronic) Linking ISSN: 16182642 NLM ISO Abbreviation: Anal Bioanal Chem Subsets: MEDLINE

Metachromatic leukodystrophy (MLD) in France: the views of family caregivers on the diagnosis of the disease, its daily burden on their child, and the whole family.

Authors: Yazbeck E Barth M Boyer A et al.

Source: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie [Arch Pediatr] 2026 Apr; Vol. 33 (3), pp. 105483. Date of Electronic Publication: 2026 Feb 27.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: France NLM ID: 9421356 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1769-664X (Electronic) Linking ISSN: 0929693X NLM ISO Abbreviation: Arch Pediatr Subsets: MEDLINE

Gene therapy for Krabbe disease: evidence from mouse and canine models.

Authors: Li Y Dong X Guo J et al.

Source: Gene [Gene] 2026 Feb 20; Vol. 980, pp. 149949. Date of Electronic Publication: 2025 Dec 09.

Publication Type: Journal Article; Review

Journal Info: Publisher: Elsevier/North-Holland Country of Publication: Netherlands NLM ID: 7706761 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0038 (Electronic) Linking ISSN: 03781119 NLM ISO Abbreviation: Gene Subsets: MEDLINE

Very late-onset Krabbe disease with concomitant dementia: case description and a critical review of the literature.

Authors: Rossi S Tessa A Vita MG et al.

Source: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2026 Feb 13; Vol. 47 (3), pp. 257. Date of Electronic Publication: 2026 Feb 13.

Publication Type: Journal Article; Case Reports; Review

Journal Info: Publisher: Springer-Verlag Italia Country of Publication: Italy NLM ID: 100959175 Publication Model: Electronic Cited Medium: Internet ISSN: 1590-3478 (Electronic) Linking ISSN: 15901874 NLM ISO Abbreviation: Neurol Sci Subsets: MEDLINE

Amelioration of Inflammation and Metabolic Blockage in GALC Deficient Mice After Enzyme Replacement Therapy via Extracellular Vesicles.

Authors: Zelada D Saldivia N Samano S et al.

Source: International journal of nanomedicine [Int J Nanomedicine] 2025 Jul 17; Vol. 20, pp. 9093-9110. Date of Electronic Publication: 2025 Jul 17 (Print Publication: 2025).

Publication Type: Journal Article

Journal Info: Publisher: DOVE Medical Press Country of Publication: New Zealand NLM ID: 101263847 Publication Model: eCollection Cited Medium: Internet ISSN: 1178-2013 (Electronic) Linking ISSN: 11769114 NLM ISO Abbreviation: Int J Nanomedicine Subsets: MEDLINE

Natural History and Diagnostic Findings in an Adult Man Diagnosed With Attenuated Krabbe Disease.

Authors: McCarron EP Oldham A Herwadkar A et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2025 Jul; Vol. 197 (7), pp. e64031. Date of Electronic Publication: 2025 Feb 28.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Characterizing Diagnostic Delays in Metachromatic Leukodystrophy: A Real-World Data Approach.

Authors: Mohajer A Sevagamoorthy A Bean K et al.

Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2025 Jul; Vol. 48 (4), pp. e70049.

Publication Type: Journal Article

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

High Prevalence of GALC Gene Variants in Adults With Neurodegenerative Conditions.

Authors: Feo F Tramacere L Ramat S et al.

Source: European journal of neurology [Eur J Neurol] 2025 May; Vol. 32 (5), pp. e70206.

Publication Type: Journal Article

Journal Info: Publisher: Wiley Country of Publication: England NLM ID: 9506311 Publication Model: Print Cited Medium: Internet ISSN: 1468-1331 (Electronic) Linking ISSN: 13515101 NLM ISO Abbreviation: Eur J Neurol Subsets: MEDLINE

In vivo adenine base editing of mutant Galc gene ameliorates Krabbe disease progression.

Authors: Nam BG Seo JH Hong SA et al.

Source: Genome medicine [Genome Med] 2026 Apr 23; Vol. 18 (1). Date of Electronic Publication: 2026 Apr 23.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE

Thoracic surgery for spontaneous pneumothorax in a long-term survivor of infantile Krabbe disease: a case report.

Authors: Watanabe SN Kimura D Sasaki T et al.

Source: Journal of cardiothoracic surgery [J Cardiothorac Surg] 2026 Apr 21; Vol. 21 (1). Date of Electronic Publication: 2026 Apr 21.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101265113 Publication Model: Electronic Cited Medium: Internet ISSN: 1749-8090 (Electronic) Linking ISSN: 17498090 NLM ISO Abbreviation: J Cardiothorac Surg Subsets: MEDLINE

Two-tiered newborn screening for infantile Krabbe disease allows timely treatment initiation and avoids false-positive results.

Authors: Hall PL White AL Peck D et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2026 Apr; Vol. 28 (4), pp. 101572. Date of Electronic Publication: 2025 Aug 29.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Clinical and molecular characterization of Krabbe disease in Iranian patients: case report and literature review.

Authors: Asgari P Vahed IE Fateh ST et al.

Source: BMC neurology [BMC Neurol] 2026 Feb 27; Vol. 26 (1). Date of Electronic Publication: 2026 Feb 27.

Publication Type: Journal Article; Case Reports; Review

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 100968555 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2377 (Electronic) Linking ISSN: 14712377 NLM ISO Abbreviation: BMC Neurol Subsets: MEDLINE