Results 101 to 110 of about 3,164 (162)

Metachromatic leukodystrophy [PDF]

, 2020
openaire   +1 more source

Developing a National Network for Leukodystrophy Research and Care in Canada: The CARELeuko Initiative. [PDF]

Neurol Genet
Chapleau A, Le A, Simo J, Venkateswaran S, Lacaze-Masmonteil T, Piscopo VEC, Gauthier S, Villa Tobón F, Alam SS, Lentini L, Brais B, Ernst C, Mitchell JJ, Vinh DC, Zhou Y, Kennedy TE, Goloff N, Riham B, Chapleau R, Smith B, Greger V, Della Rocca J, Louis LM, Dike A, McIntyre LL, McIntyre DF, Tardif J, Lapointe É, Barnett J, Loignon V, Bardai G, Contant S, Durcan TM, La Piana R, Bernard G, as RareKids-CAN, RARE.Qc, CARELeuko.   +37 more
europepmc   +1 more source

'Lenmeldy (OTL-200) in MLD: FDA's validation of advanced therapy'. [PDF]

Ann Med Surg (Lond)
Qureshi AA, Shaikh B, Aswad AS, Saeed AH, Tabassum H, Tahir MF, Jaber MH.   +6 more
europepmc   +1 more source

Peripheral Neuropathy-Predominant Adult-Onset Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay: Novel Variant in the SACS gene. [PDF]

Ann Indian Acad Neurol
Dash A, Mustafa F, Agarwal A, Garg D, Pandit AK, Srivastava AK, Radhakrishnan DM.   +6 more
europepmc   +1 more source

Allogeneic Hematopoietic Stem Cell Transplantation as a Therapeutic Approach for Hereditary Diseases. [PDF]

Biomedicines
Nagieva S, Smirnikhina S.
europepmc   +1 more source

Metachromatic leukodystrophy

, 2014
openaire   +1 more source

A Rare Clinical Confluence: Metachromatic Leukodystrophy and Distal Renal Tubular Acidosis. [PDF]

Indian J Nephrol
Kumar N, Panda S, Shanker A.
europepmc   +1 more source

Metachromatic Leukodystrophy

, 2011
openaire   +2 more sources

Mitochondrial DNA Maintenance Defects: Clinical, Imaging, and Genetic Spectrum of Four Patients from a Single Tertiary Care Centre. [PDF]

Ann Indian Acad Neurol
Amalnath D, Saibaba J, Wadwekar V, Nagarajan K, Senthilvelan S.   +4 more
europepmc   +1 more source