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Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical management.
Laugwitz L, Schoenmakers DH, Adang LA, Beck-Woedl S, Bergner C, Bernard G, Bley A, Boyer A, Calbi V, Dekker H, Eichler F, Eklund E, Fumagalli F, Gavazzi F, Grønborg SW, van Hasselt P, Langeveld M, Lindemans C, Mochel F, Oberg A, Ram D, Saunier-Vivar E, Schöls L, Scholz M, Sevin C, Zerem A, Wolf NI, Groeschel S. Laugwitz L, et al. Among authors: ram d. Eur J Paediatr Neurol. 2024 Mar;49:141-154. doi: 10.1016/j.ejpn.2024.03.003. Epub 2024 Mar 9. Eur J Paediatr Neurol. 2024. PMID: 38554683 Free article.
Improving newborn screening test performance for metachromatic leukodystrophy: Recommendation from a pre-pilot study that identified a late-infantile case for treatment.
Wu THY, Brown HA, Church HJ, Kershaw CJ, Hutton R, Egerton C, Cooper J, Tylee K, Cohen RN, Gokhale D, Ram D, Morton G, Henderson M, Bigger BW, Jones SA. Wu THY, et al. Among authors: ram d. Mol Genet Metab. 2024 May;142(1):108349. doi: 10.1016/j.ymgme.2024.108349. Epub 2024 Feb 20. Mol Genet Metab. 2024. PMID: 38458124 Free article.
Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries.
Schoenmakers DH, Mochel F, Adang LA, Boelens JJ, Calbi V, Eklund EA, Grønborg SW, Fumagalli F, Groeschel S, Lindemans C, Sevin C, Schöls L, Ram D, Zerem A, Graessner H, Wolf NI. Schoenmakers DH, et al. Among authors: ram d. Orphanet J Rare Dis. 2024 Feb 7;19(1):46. doi: 10.1186/s13023-024-03075-3. Orphanet J Rare Dis. 2024. PMID: 38326898 Free PMC article.
First in man study of intravitreal tripeptidyl peptidase 1 for CLN2 retinopathy.
Wawrzynski J, Martinez AR, Thompson DA, Ram D, Bowman R, Whiteley R, Gan C, Harding L, Mortensen A, Mills P, Gissen P, Henderson RH. Wawrzynski J, et al. Among authors: ram d. Eye (Lond). 2024 Apr;38(6):1176-1182. doi: 10.1038/s41433-023-02859-4. Epub 2023 Dec 4. Eye (Lond). 2024. PMID: 38049626 Free PMC article.
Evolution of brain MRI lesions in paediatric myelin-oligodendrocyte glycoprotein antibody-associated disease (MOGAD) and its relevance to disease course.
Abdel-Mannan O, Champsas D, Tur C, Lee V, Manivannan S, Usman H, Skippen A, Desai I, Chitre M, Forsyth R, Kneen R, Ram D, Ramdas S, Rossor T, West S, Wright S, Palace J, Wassmer E, Hemingway C, Lim MJ, Mankad K, Ciccarelli O, Hacohen Y; UK-Childhood Neuroinflammatory Disease Network. Abdel-Mannan O, et al. Among authors: ram d. J Neurol Neurosurg Psychiatry. 2024 Apr 12;95(5):426-433. doi: 10.1136/jnnp-2023-332542. J Neurol Neurosurg Psychiatry. 2024. PMID: 37979966
336 results