E-LIB Suche - Ergebnisse für: Adang, Laura A.

1

The impact of multiple sulfatase deficiency on children and..:

Yu, Emily ; Gavazzi, Francesco ; Schlotawa, Lars...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 108091 , 2024

Link: https://doi.org/10.1016/..

2

Consensus guidelines for the monitoring and management of m..:

Adang, Laura A. ; Bonkowsky, Joshua L. ; Boelens, Jaap Jan...
Cytotherapy. , 2024

Link: https://doi.org/10.1016/..

3

Validation of GMFC-MLD scale as a measure of gross motor fu..:

Mutua, Sylvia ; Sevagamoorthy, Anjana ; Gavazzi, Francesco...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107976 , 2024

Link: https://doi.org/10.1016/..

4

A phase 2 study assessing TAK-611150 mg intrathecal weekly ..:

Adang, Laura A. ; Malanga, C.J. ; Burton, Barbara K....
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107744 , 2024

Link: https://doi.org/10.1016/..

5

The natural history of variable subtypes in pediatric-onset..:

Vanderver, Adeline ; Gavazzi, Francesco ; Charsar, Brittany...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108271 , 2024

Link: https://doi.org/10.1016/..

6

Compassionate use of lentiviral gene therapy for metachroma..:

Orchard, Paul J. ; Gupta, Ashish ; Adang, Laura A....
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107989 , 2024

Link: https://doi.org/10.1016/..

7

Preservation of cognitive skills in Aicardi Goutières syndr..:

Gavazzi, Francesco ; Vaia, Ylenia ; Woidill, Sarah...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108220 , 2024

Link: https://doi.org/10.1016/..

8

Development of a rigorous approach for retrospective natura..:

Sevagamoorthy, Anjana ; Gavazzi, Francesco ; Sherbini, Omar...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 108041 , 2024

Link: https://doi.org/10.1016/..

9

Newborn screening in metachromatic leukodystrophy – Europea..:

Laugwitz, Lucia ; Schoenmakers, Daphne H. ; Adang, Laura A....
European Journal of Paediatric Neurology. 49 (2024) - p. 141-154 , 2024

Link: https://doi.org/10.1016/..

10

Nonverbal Cognitive Skills in Children With Aicardi Goutièr..:

Gavazzi, Francesco ; Vaia, Ylenia ; Woidill, Sarah...
Neurology. 103 (2024) 1 - p. , 2024

Link: https://doi.org/10.1212/..

11

Nucleotide metabolism, leukodystrophies, and CNS pathology:

Gavazzi, Francesco ; Gonzalez, Carlos Dominguez ; Arnold, Kaley...
Journal of Inherited Metabolic Disease. , 2024

Link: https://doi.org/10.1002/..

12

Cost-effectiveness framework by tandem mass spectrometry (T..:

Bean, Karen ; Gelb, Michael H. ; Adang, Laura A...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107769 , 2024

Link: https://doi.org/10.1016/..

13

Characterization of Fine Motor and Visual Motor Skills in A..:

Cusack, Stacy V. ; Gavazzi, Francesco ; de Barcelos, Isabella Peixoto...
Journal of Child Neurology. 39 (2024) 3-4 - p. 147-154 , 2024

Link: https://doi.org/10.1177/..

14

Inerferon signaling gene expression as a diagnostic biomark..:

Takanohashi, Asako ; Adang, Laura ; D'Aiello, Russell...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108176 , 2024

Link: https://doi.org/10.1016/..

15

Systematic analysis of genotype-phenotype variability in si..:

de Barcelos, Isabella Peixoto ; Woidill, Sarah ; Gavazzi, Francesco...
Molecular Genetics and Metabolism. 142 (2024) 1 - p. 108346 , 2024

Link: https://doi.org/10.1016/..