E-LIB Suche - Ergebnisse für: Murphy, E. (Elaine)

1

Brain function in classic galactosemia, a galactosemia netw..:

Panis, Bianca ; Vos, E. Naomi ; Barić, Ivo...
Frontiers in Genetics. 15 (2024) - p. , 2024

Link: https://doi.org/10.3389/..

2

The management and clinical outcomes of pregnancies in wome..:

Stepien, Karolina M. ; Langendonk, Janneke G. ; Dao, Myriam...
Journal of Inherited Metabolic Disease. , 2023

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

3

Leukoencephalopathy caused by a 17p13.3 microdeletion:

Wade, Charles ; Williams, Thomas ; Labrum, Robyn...
Journal of Neurology, Neurosurgery & Psychiatry. 95 (2023) 3 - p. 290-292 , 2023

Link: https://doi.org/10.1136/..

4

Adult Onset Genetic Leukoencephalopathy: Practical Guide to..:

Lynch, David ; Williams, Thomas ; John, Nevin...
Neurology. 94 (2020) 15_supplement - p. , 2020

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

5

Movement disorders and nonmotor neuropsychological symptoms..:

Kuiper, Anouk ; Grünewald, Stephanie ; Murphy, Elaine...
Journal of Inherited Metabolic Disease. 42 (2019) 3 - p. 451-458 , 2019

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

6

The natural history of classic galactosemia: lessons from t..:

Rubio-Gozalbo, M.E. (Estela) ; Haskovic, M ; van den Bosch, A.M...
http://repub.eur.nl/pub/116995. , 2019

Link: http://repub.eur.nl/pub/..

7

Movement disorders and nonmotor neuropsychological symptoms..:

Kuiper, A ; Grünewald, S. (Sonja) ; Murphy, E. (Elaine)...
http://repub.eur.nl/pub/116904. , 2019

Link: http://repub.eur.nl/pub/..

8

Practical approach to the diagnosis of adult-onset leukodys..:

Lynch, David S ; Wade, Charles ; Paiva, Anderson Rodrigues Brandão de...
Journal of Neurology, Neurosurgery & Psychiatry. 90 (2018) 5 - p. 543-555 , 2018

Link: https://doi.org/10.1136/..

9

Mucolipidosis type III, a series of adult patients:

Oussoren, Esmee ; van Eerd, David ; Murphy, Elaine...
Journal of Inherited Metabolic Disease. 41 (2018) 5 - p. 839-848 , 2018

Link: https://doi.org/10.1007/..

10

Mucolipidosis type III, a series of adult patients:

Oussoren, E. (Esmée) ; van Eerd, D. (David) ; Murphy, E. (Elaine)...
http://repub.eur.nl/pub/106120. , 2018

Link: http://repub.eur.nl/pub/..

11

Isolated aortic root dilation in homocystinuria:

Lorenzini, Massimiliano ; Guha, Nishan ; Davison, James E....
Journal of Inherited Metabolic Disease. 41 (2017) 1 - p. 109-115 , 2017

Link: https://doi.org/10.1007/..

12

Expanding the phenotype in argininosuccinic aciduria: need ..:

Baruteau, Julien ; Jameson, Elisabeth ; Morris, Andrew A....
Journal of Inherited Metabolic Disease. 40 (2017) 3 - p. 357-368 , 2017

Link: https://doi.org/10.1007/..

13

International clinical guideline for the management of clas..:

Welling, Lindsey ; Bernstein, Laurie E. ; Berry, Gerard T....
Journal of Inherited Metabolic Disease. 40 (2016) 2 - p. 171-176 , 2016

Link: https://doi.org/10.1007/..

14

Cognitive dysfunction and depression in Fabry disease: a sy..:

Bolsover, Fay E. ; Murphy, Elaine ; Cipolotti, Lisa..
Journal of Inherited Metabolic Disease. 37 (2013) 2 - p. 177-187 , 2013

Link: https://doi.org/10.1007/..

15

A Novel Phenotype of Glycogen Storage Disease Presenting as..:

Martin, Joanne E. ; Chowdhury, ATMDilshad H. ; McElwaine, Suzanne...
Gastroenterology. 140 (2011) 5 - p. S-705 , 2011

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