E-LIB Suche - Ergebnisse für: Crushell, E

1

An approach to recognising and identifying metabolic presen..:

Forman, E. B. ; Lynch, S. A. ; Knerr, I....
European Journal of Pediatrics. 182 (2022) 1 - p. 31-40 , 2022

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

2

Phenotype, treatment practice and outcome in the cobalamin-..:

the EHOD consortium ; Huemer, Martina ; Diodato, Daria...
Journal of Inherited Metabolic Disease. , 2018

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

3

A review of anaesthetic outcomes in patients with genetical..:

Smith, A. ; Dunne, E. ; Mannion, M....
European Journal of Pediatrics. 176 (2016) 1 - p. 83-88 , 2016

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

4

Classical Galactosaemia in Ireland: incidence, complication..:

Coss, K. P. ; Doran, P. P. ; Owoeye, C....
Journal of Inherited Metabolic Disease. 36 (2012) 1 - p. 21-27 , 2012

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

5

Negative screening tests in classical galactosaemia caused ..:

Crushell, E. ; Chukwu, J. ; Mayne, P...
Journal of Inherited Metabolic Disease. 32 (2009) 3 - p. 412-415 , 2009

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

6

Clinical disease characteristics of patients with Niemann-P..:

Bolton, SC ; Soran, V ; Marfa, MP...
https://discovery.ucl.ac.uk/id/eprint/10144626/1/s13023-022-02200-4.pdf. , 2022

Link: https://discovery.ucl.ac..

7

NBAS variants are associated with quantitative and qualitat..:

Lenz, D ; Pahl, J ; Hauck, F...
https://eprints.whiterose.ac.uk/177468/7/Lenz2021_Article_NBASVariantsAreAssociatedWithQ.pdf. , 2021

Link: https://eprints.whiteros..

8

NBAS variants are associated with quantitative and qualitat..:

Lenz, D ; Pahl, J ; Hauck, F...
info:eu-repo/semantics/altIdentifier/doi/10.1007/s10875-021-01110-7. , 2021

Link: https://push-zb.helmholt..

9

Genotypic diversity and phenotypic spectrum of infantile li..:

Lenz, D ; Smith, D.E.C ; Crushell, E...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41436-020-0904-4. , 2020

Link: https://push-zb.helmholt..

10

Phosphoglucomutase-1 deficiency: Early presentation, metabo..:

Conte, F ; Morava, E ; Bakar, N.A...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ymgme.2020.08.003. , 2020

Link: https://push-zb.helmholt..

11

Defining clinical subgroups and genotype-phenotype correlat..:

Staufner, C ; Peters, B ; Wagner, M...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41436-019-0698-4. , 2020

Link: https://push-zb.helmholt..

12

Consensus clinical management guidelines for Niemann-Pick d..:

Geberhiwot, T ; Moro, A ; Dardis, A...
https://discovery.ucl.ac.uk/id/eprint/10047493/1/s13023-018-0785-7.pdf. , 2018

Link: https://discovery.ucl.ac..

13

Consensus clinical management guidelines for Niemann-Pick d..:

Geberhiwot, T ; Moro, A ; Dardis, A...
issn:1750-1172. , 2018

Link: http://hdl.handle.net/11..

14

Clinical, biochemical, and genetic features of four patient..:

Fitzsimons, PE ; Alston, CL ; Bonnen, PE...
issn:1552-4825. , 2018

Link: http://hdl.handle.net/11..

15

A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes ..:

Alston, CL ; Howard, C ; Olahova, M...
issn:0022-2593. , 2016

Link: http://hdl.handle.net/11..