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Longer titles found: Metachromatic leukodystrophy (view), Autosomal dominant leukodystrophy with autonomic disease (view)

searching for Leukodystrophy 55 found (161 total)

alternate case: leukodystrophy

Galactosylceramidase (989 words) [view diff] exact match in snippet view article find links to article

galactocerebrosidase improves survival in a mouse model of globoid cell leukodystrophy". FASEB J. 21 (10): 2520–2527. doi:10.1096/fj.06-6169com. PMID 17403939

Megalencephalic leukoencephalopathy with subcortical cysts (1,287 words) [view diff] exact match in snippet view article find links to article

CNS demyelinating disease. It belongs to a group of disorders called leukodystrophies. It is characterized by early-onset enlargement of the head (macrocephaly)

List of MeSH codes (C18) (4,274 words) [view diff] exact match in snippet view article

MeSH C18.452.100.100.435.825.590 – leukodystrophy, globoid cell MeSH C18.452.100.100.435.825.594 – leukodystrophy, metachromatic MeSH C18.452.100.100

Ying-Hui Fu (2,257 words) [view diff] exact match in snippet view article find links to article

mutation that led to ADLD in humans. Adult-onset autosomal dominant leukodystrophy (ADLD) is a neurological disorder that is associated with widespread

Madison McLaughlin (517 words) [view diff] exact match in snippet view article find links to article

and spinal cord involvement and leg spasticity (HBSL), a rare genetic leukodystrophy. Madison Blaine McLaughlin lived in Louisiana before moving to Los Angeles

Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (1,534 words) [view diff] exact match in snippet view article find links to article

RVCL-S, also previously known as retinal vasculopathy with cerebral leukodystrophy, RVCL; or cerebroretinal vasculopathy, CRV; or hereditary vascular retinopathy

List of MeSH codes (C16) (6,496 words) [view diff] exact match in snippet view article

MeSH C16.320.565.150.435.825.590 – leukodystrophy, globoid cell MeSH C16.320.565.150.435.825.594 – leukodystrophy, metachromatic MeSH C16.320.565.150

Lamin B1 (1,047 words) [view diff] exact match in snippet view article find links to article

affecting the LMNB1 gene cause autosomal dominant adult-onset demyelinating leukodystrophy. Lamin B2 GRCh38: Ensembl release 89: ENSG00000113368 – Ensembl, May

Glycoside hydrolase family 59 (490 words) [view diff] exact match in snippet view article find links to article

one known activity; galactocerebrosidase (EC 3.2.1.46). Globoid cell leukodystrophy (Krabbe disease) is a severe, autosomal recessive disorder that results

Wiedemann–Rautenstrauch syndrome (761 words) [view diff] exact match in snippet view article find links to article

been associated with hypogonadotropic hypogonadism and hypomyelinating leukodystrophy with or without oligodontia. Marfan lipodystrophy syndrome (MFLS) has

Topologically associating domain (3,140 words) [view diff] exact match in snippet view article find links to article

disorders like Hypoplastic corpus callosum and Adult-onset demyelinating leukodystrophy. The mechanisms underlying TAD formation are also complex and not yet

Hyccin protein family (245 words) [view diff] exact match in snippet view article find links to article

cause of Hypomyelination and Congenital Cataract (HCC), also called leukodystrophy hypomyelinating type 5 (HLD5). This disorder is characterised by congenital

Cairn Terrier (656 words) [view diff] exact match in snippet view article find links to article

Entropion Hip dysplasia Hypothyroidism Krabbe disease (globoid cell leukodystrophy) Legg–Calvé–Perthes disease Lens luxation Luxating patella Ocular melanosis

OLIG1 (595 words) [view diff] exact match in snippet view article find links to article

OLIG2) mutations are not associated with Pelizaeus-Merzbacher-like leukodystrophy". American Journal of Medical Genetics Part B. 144B (3): 365–6. doi:10

GJC2 (714 words) [view diff] exact match in snippet view article find links to article

Shimazaki R, et al. (2010). "[A case of autosomal recessive hypomyelinating leukodystrophy without GJA12 mutation presenting a novel phenotype]". Rinsho Shinkeigaku

EIF2 (1,499 words) [view diff] exact match in snippet view article find links to article

are associated with Vanishing White Matter (VWM) disease, a genetic leukodystrophy which causes the brain's white matter to degenerate and disappear. It

List of diseases (K) (406 words) [view diff] exact match in snippet view article

Kozlowski–Warren–Fisher syndrome Kozlowski–Krajewska syndrome Krabbe leukodystrophy Krasnow–Qazi syndrome Krause–Kivlin syndrome Krauss–Herman–Holmes syndrome

Bhim Singhal (748 words) [view diff] exact match in snippet view article find links to article

help from his colleagues, he discovered the entity of Megalencephalic Leukodystrophy with a specific gene defect prevalent in the Agarwal community. Throughout

NKX6-2 (834 words) [view diff] exact match in snippet view article find links to article

Patients with Early-Onset Spastic Quadriplegia and Diffuse Hypomyelinating Leukodystrophy". Brain Disorders. 9: 100069. doi:10.1016/j.dscb.2023.100069. Serth

Psychosine (82 words) [view diff] exact match in snippet view article find links to article

"Psychosine, the cytotoxic sphingolipid that accumulates in globoid cell leukodystrophy, alters membrane architecture". The Journal of Lipid Research. 54 (12):

List of diseases (M) (2,469 words) [view diff] exact match in snippet view article

Megaduodenum Mega-epiphyseal dwarfism Megalencephalic leukodystrophy Megalencephaly-cystic leukodystrophy Megaloblastic anemia Megalocornea mental retardation

Aspartoacylase (1,649 words) [view diff] exact match in snippet view article find links to article

(April 2013). "Canavan disease, a rare early-onset human spongiform leukodystrophy: insights into its genesis and possible clinical interventions". Biochimie

Glutaric acidemia type 2 (941 words) [view diff] exact match in snippet view article find links to article

body treatment in multiple acyl-CoA dehydrogenase deficiency-related leukodystrophy". Pediatr Res. 77 (1): 91–8. doi:10.1038/pr.2014.154. PMID 25289702

List of MeSH codes (C10) (9,229 words) [view diff] exact match in snippet view article

MeSH C10.228.140.163.100.435.825.590 – leukodystrophy, globoid cell MeSH C10.228.140.163.100.435.825.594 – leukodystrophy, metachromatic MeSH C10.228.140.163

West Highland White Terrier (3,314 words) [view diff] exact match in snippet view article find links to article

inherited genetic problem that exists in the breed is globoid cell leukodystrophy. It is not breed-specific, and can appear in Cairn Terriers and other

2,4 Dienoyl-CoA reductase deficiency (531 words) [view diff] exact match in snippet view article find links to article

SNOMED CT: 444944006 External resources GARD: Progressive encephalopathy with leukodystrophy due to DECR deficiency Orphanet: 431361 Scholia: Q4596783

Hilda Villegas Castrejón (460 words) [view diff] exact match in snippet view article find links to article

Vázquez-Escamilla, J., & Reyes-Marín, B. (2006). Diagnosis of Krabbe leukodystrophy by transmission electron microscopy. Report of a patient. Surgery and

OLIG2 (3,206 words) [view diff] exact match in snippet view article find links to article

OLIG2) mutations are not associated with Pelizaeus-Merzbacher-like leukodystrophy". American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics

NDUFS6 (971 words) [view diff] exact match in snippet view article find links to article

neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, nonspecific encephalopathy, hypertrophic cardiomyopathy, myopathy,

James H. Austin (848 words) [view diff] exact match in snippet view article find links to article

Neuropathology and Experimental Neurolog. Studies in Globoid (Krabbe) Leukodystrophy: III—Significance of Experimentally-Produced Globoid-Like Elements in

Claudin 25 (201 words) [view diff] exact match in snippet view article find links to article

loss of function mutation in CLDN25 causing Pelizaeus-Merzbacher-like leukodystrophy” Human Molecular Genetics, ddae038, PMID: 38493358. DOI: 10.1093/hmg/ddae038

Jim Kelly (3,517 words) [view diff] exact match in snippet view article find links to article

to his son, Hunter James Kelly, who was diagnosed with globoid-cell leukodystrophy (Krabbe disease) shortly after his birth on February 14, 1997, which

Claudin 25 (201 words) [view diff] exact match in snippet view article find links to article

loss of function mutation in CLDN25 causing Pelizaeus-Merzbacher-like leukodystrophy” Human Molecular Genetics, ddae038, PMID: 38493358. DOI: 10.1093/hmg/ddae038

MLC1 (1,070 words) [view diff] exact match in snippet view article find links to article

Singhal BS, Kainu T, et al. (2004). "Indian Agarwal megalencephalic leukodystrophy with cysts is caused by a common MLC1 mutation". Neurology. 62 (6):

TREX1 (1,270 words) [view diff] exact match in snippet view article find links to article

syndrome, chilblain lupus, RVCL (Retinal Vasculopathy with Cerebral Leukodystrophy), and Cree encephalitis. Multiple transcript variants encoding different

NDUFS7 (1,357 words) [view diff] exact match in snippet view article find links to article

neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease

Cerebral folate deficiency (1,337 words) [view diff] exact match in snippet view article find links to article

shows low levels of 5MTHF, and a loss of white matter in the brain (leukodystrophy) may occur. As a result of the decreased levels of 5MTHF, the child

Hypomyelination-congenital cataract syndrome (661 words) [view diff] exact match in snippet view article find links to article

cataracts". www.marchofdimes.org. Retrieved 2022-07-13. "Entry - #610532 - Leukodystrophy, hypomyelinating, 5; HLD5 - OMIM". omim.org. Retrieved 2022-07-13.

NDUFS3 (1,704 words) [view diff] exact match in snippet view article find links to article

neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, nonspecific encephalopathy, hypertrophic cardiomyopathy, myopathy,

List of diseases (P) (1,908 words) [view diff] exact match in snippet view article

acute infantile Pelizaeus–Merzbacher disease Pelizaeus–Merzbacher leukodystrophy Pellagra Pellagra like syndrome Pellagrophobia Pelvic dysplasia arthrogryposis

Cell therapy (4,181 words) [view diff] exact match in snippet view article find links to article

"Allogeneic mesenchymal stem cell infusion for treatment of metachromatic leukodystrophy (MLD) and Hurler syndrome (MPS-IH)". Bone Marrow Transplantation. 30

Louis Ptáček (1,413 words) [view diff] exact match in snippet view article find links to article

K, Ptáček LJ, Fu YH. Lamin B1 duplications cause autosomal dominant leukodystrophy. Nat Genet. 2006 Oct; 38(10):1114-23. Xu Y, Toh KL, Jones CR, Shin JY

Waardenburg syndrome (5,809 words) [view diff] exact match in snippet view article find links to article

is called peripheral demyelinating neuropathy–central dysmyelinating leukodystrophy–Waardenburg syndrome–Hirschsprung disease (PCWH). Waardenburg syndrome

Tubulin beta-4A chain (1,293 words) [view diff] exact match in snippet view article find links to article

PMC 3644625. PMID 23582646. Online Mendelian Inheritance in Man (OMIM): Leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum;

Twenty-first-century fundraising walks in Tasmania (1,185 words) [view diff] exact match in snippet view article find links to article

Australian Lions Children's Mobility Foundation (ALCMF) and the Australian Leukodystrophy Support Group Inc (ALDS). The disparity in distance is due to John walking

Roscoe Brady (1,155 words) [view diff] exact match in snippet view article find links to article

1967;155: 86–88. Percy AK, Brady RO. The diagnosis of metachromatic leukodystrophy with venous blood samples. Science 1968; 161: 594–595. Sloan HR, Uhlendorf

List of diseases (C) (3,648 words) [view diff] exact match in snippet view article

vertebral fusion Campylobacteriosis Camurati–Engelmann disease Canavan leukodystrophy Candidiasis Chronic mucocutaneous candidiasis Canga's bead symptom Canine

Wolfgang Grodd (1,685 words) [view diff] exact match in snippet view article find links to article

Kohlschuetter, A., Loes, D.J., and Kraegeloh-Mann, I. (2009). Metachromatic leukodystrophy: a scoring system for brain MR imaging observations. AJNR Am J Neuroradiol

Hanoch Senderowitz (1,507 words) [view diff] exact match in snippet view article find links to article

Screening Identifies Sigma-1-Receptor as a Target for the Therapy of VWM Leukodystrophy". Frontiers in Molecular Neuroscience. 11: 336. doi:10.3389/fnmol.2018

Genetic counseling (10,268 words) [view diff] exact match in snippet view article find links to article

Intellectual disabilities, developmental delays, and autism spectrum disorder Leukodystrophy (hereditary white matter diseases) Memory and other cognitive disorders

Elivaldogene autotemcel (1,723 words) [view diff] exact match in snippet view article find links to article

Schaumburg HH, Powers JM, Suzuki K, Raine CS (September 1974). "Adreno-leukodystrophy (sex-linked Schilder disease). Ultrastructural demonstration of specific

SURF1 (2,402 words) [view diff] exact match in snippet view article find links to article

Brown GK (June 2001). "A SURF1 gene mutation presenting as isolated leukodystrophy". Annals of Neurology. 49 (6): 797–800. doi:10.1002/ana.1060. PMID 11409433

Organ donation (17,683 words) [view diff] exact match in snippet view article find links to article

of morphine and sedatives to hasten the death of a man with adrenal leukodystrophy and irreversible brain damage, in order to procure his organs for transplant

2001 Australia Day Honours (119 words) [view diff] exact match in snippet view article find links to article

service to the community, particularly as the founder of the Australian Leukodystrophy Support Group Inc Ian James Thorpe For service to sport as a gold medallist

Myelinoid (4,897 words) [view diff] exact match in snippet view article find links to article

is a critical protein for myelin formation. PMD is classified as a leukodystrophy, meaning that it is a disease affecting the white matter of the brain