Results 111 to 120 of about 7,353 (158)

Stem cell and gene therapies for leukodystrophies. [PDF]

Mol Ther Methods Clin Dev
Lin W, Zhang M, Zheng S, Lian Q.
europepmc   +1 more source

Insights from the LysoNeo prospective cohort study to improve newborn screening of lysosomal diseases. [PDF]

Commun Med (Lond)
Tebani A, Guenet D, Torre S, Arion A, Héron B, Brassier A, Belmatoug N, Ausseil J, Bruel H, Lévéque C, Goldenberg A, Gruchy N, Apetrei A, Bach N, Guerrot AM, Samaan S, Ducatez F, Marret S, Bekri S.   +18 more
europepmc   +1 more source

Erratum. [PDF]

Mol Syndromol
europepmc   +1 more source

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

White Matter Disease in a Toddler With New-Onset Seizures. [PDF]

Ann Child Neurol Soc
Viscuso O, Patel B, Gibson JB, Keith LG.
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

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

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

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

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