Results 81 to 90 of about 3,164 (162)

When exome analysis is the key for your patient with cognitive decline: a case report. [PDF]

Dement Neuropsychol
Mendes AA, da Silva IF, Uchoa DS, de Oliveira IC, de Freitas JL, Rocha MSG, Brucki SMD.   +6 more
europepmc   +1 more source

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

J Cardiothorac Surg
Watanabe SN, Kimura D, Sasaki T, Yamamoto T, Saito J, Minakawa M.   +5 more
europepmc   +1 more source

The impact of leukodystrophies on parents' lives. [PDF]

J Pediatr Psychol
Zampini L, Cordolcini L, Draghi L, Zanchi P, Vaia Y, Bonaventura E, Tonduti D.   +6 more
europepmc   +1 more source

Lenmeldy (atidarsagene autotemcel) for individuals with early metachromatic leukodystrophy (MLD): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG). [PDF]

Genet Med Open
Gangji RN, Ali QA, Dhamija R, Corado AM, Kharbanda S, ACMG Therapeutics Committee6∗documents@acmg.net.   +5 more
europepmc   +1 more source

Prosaposin in CNS health and disease, metabolic stress and exercise adaptation. [PDF]

J Mol Med (Berl)
Taha HB, Zhu S, Wang E.
europepmc   +1 more source

Metachromatic Leukodystrophy [PDF]

, 2019
openaire   +1 more source

Metachromatic Leukodystrophy: New Therapy Advancements and Emerging Research Directions. [PDF]

Neurology
Asbreuk MABC, Schoenmakers DH, Adang LA, Beerepoot S, Bergner C, Bley A, Boelens JJ, Bugiani M, Calbi V, García-Cazorla À, Eklund EA, Fumagalli F, Grønborg SW, Groeschel S, Van Hasselt PM, Hollak CEM, Jones SA, de Koning TJ, van Kuilenburg ABP, Laugwitz L, Lindemans C, Mochel F, Øberg A, Ram D, Schöls L, Sevin C, Sinha J, Vaz FM, Zerem A, Wolf NI.   +29 more
europepmc   +1 more source

Editorial for Special Issue on Gene Therapy of Rare Diseases. [PDF]

Cells
Brakebusch C.
europepmc   +1 more source

Neurodegenerative Diseases in Children: A Comprehensive Review. [PDF]

Int J Mol Sci
Ailioaie C, Ailioaie LM, Stan CI, Sava A, Chiran DA.   +4 more
europepmc   +1 more source

Study Designs and Crafting Endpoints for Gene Therapy Development Programs in Rare Disease: A Narrative Review. [PDF]

Adv Ther
Murray LT, Yin Y, Phillips D, Coats J, Tran H, Dashiell-Aje E, Rizzo M, Parker S, on behalf of the Rare Disease Clinical Outcome Assessment Consortium.   +8 more
europepmc   +1 more source