E-LIB Suche - Ergebnisse für: Janeiro, P

1

The genetic landscape of mitochondrial diseases in the next..:

Nogueira, C. ; Pereira, C. ; Silva, L....
Frontiers in Cell and Developmental Biology. 12 (2024) - p. , 2024

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

2

SUN-PO186: Nutritional Assessment of Patients with Mucopoly..:

Faria, A. ; Garcia, P. ; Rodrigues, E....
Clinical Nutrition. 38 (2019) - p. S128 , 2019

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

3

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

Rubio-Gozalbo, M. E. ; Haskovic, M. ; Bosch, A. M....
Orphanet Journal of Rare Diseases. 14 (2019) 1 - p. , 2019

Link: https://doi.org/10.1186/..

4

Liver involvement in congenital disorders of glycosylation ..:

Marques‐da‐Silva, D. ; dos Reis Ferreira, V. ; Monticelli, M....
Journal of Inherited Metabolic Disease. 40 (2017) 2 - p. 195-207 , 2017

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

5

Experimental study of the cracking behavior of specimens co..:

Janeiro, Raymond P. ; Einstein, Herbert H.
International Journal of Fracture. 164 (2010) 1 - p. 83-102 , 2010

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

6

Phenylketonuria in Portugal: Genotype–phenotype correlation..:

Ferreira, F ; Azevedo, L ; Neiva, R...
Molecular Genetics and Genomic Medicine, vol.9(3):e1559. , 2021

Link: https://hdl.handle.net/1..

7

Phenylketonuria in Portugal: Genotype-Phenotype Correlation..:

Ferreira, F ; Azevedo, L ; Neiva, R...
Mol Genet Genomic Med . 2021 Mar;9(3):e1559. , 2021

Link: http://hdl.handle.net/10..

8

Phenylketonuria in Portugal: Genotype–Phenotype Correlation..:

Ferreira, F ; Azevedo, L ; Neiva, R...
Mol Genet Genomic Med . 2021 Mar;9(3):e1559. , 2021

Link: http://hdl.handle.net/10..

9

Congenital Disorders of Glycosylation in Portugal—Two Decad..:

Quelhas, D ; Martins, E ; Azevedo, L...
J Pediatr . 2021 Apr;231:148-156.. , 2021

Link: http://hdl.handle.net/10..

10

Nutritional assessment of patients with mucopolysaccharidos..:

Faria, Ana ; Garcia, P ; Rodrigues, E...
1532-1983. , 2020

Link: http://hdl.handle.net/10..

11

Pyruvate Dehydrogenase Complex Deficiency: Updating the Cli..:

Pavlu-Pereira, H ; Silva, MJ ; Florindo, C...
Orphanet J Rare Dis . 2020 Oct 22;15(1):298. , 2020

Link: http://hdl.handle.net/10..

12

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

Rubio-Gozalbo, M. E ; Haskovic, M ; Bosch, A. M...
Rubio-Gozalbo , M E , Haskovic , M , Bosch , A M , Burnyte , B , Coelho , A I , Cassiman , D , Couce , M L , Dawson , C , Demirbas , D , Derks , T , Eyskens , F , Forga , M T , Grunewald , S , Haberle , J , Hochuli , M , Hubert , A , Huidekoper , H H , Janeiro , P , Kotzka , J , Knerr , I , Labrune , P , Landau , Y E , Langendonk , J G , Moeslinger , D , Mueller-Wieland , D , Murphy , E , Ounap , K , Ramadza , D , Rivera , I A , Scholl-Buergi , S , Stepien , K M , Thijs , A , Tran , C , Vara , R , Visser , G , Vos , R , de Vries , M , Waisbren , S E , Welsink-Karssies , M M , Wortmann , S B , Gautschi , M , Treacy , E P & Berry , G T 2019 , ' The natural history of classic galactosemia : lessons from the GalNet registry ' , Orphanet Journal of Rare Diseases , vol. 14 , 86 . https://doi.org/10.1186/s13023-019-1047-z. , 2019

Link: https://cris.maastrichtu..

13

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

Rubio-Gozalbo, M. E ; Haskovic, M ; Bosch, A. M...
Rubio-Gozalbo , M E , Haskovic , M , Bosch , A M , Burnyte , B , Coelho , A I , Cassiman , D , Couce , M L , Dawson , C , Demirbas , D , Derks , T , Eyskens , F , Forga , M T , Grunewald , S , Häberle , J , Hochuli , M , Hubert , A , Huidekoper , H H , Janeiro , P , Kotzka , J , Knerr , I , Labrune , P , Landau , Y E , Langendonk , J G , Möslinger , D , Müller-Wieland , D , Murphy , E , Õunap , K , Ramadza , D , Rivera , I A , Scholl-Buergi , S , Stepien , K M , Thijs , A , Tran , C , Vara , R , Visser , G , Vos , R , de Vries , M , Waisbren , S E , Welsink-Karssies , M M , Wortmann , S B , Gautschi , M , Treacy , E P & Berry , G T 2019 , ' The natural history of classic galactosemia: Lessons from the GalNet registry ' , Orphanet Journal of Rare Diseases , vol. 14 , no. 1 , 86 . https://doi.org/10.1186/s13023-019-1047-z. , 2019

Link: https://research.vumc.nl..

14

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

Rubio-Gozalbo, ME ; Haskovic, M ; Bosch, AM...
Rubio-Gozalbo , ME , Haskovic , M , Bosch , AM , Burnyte , B , Coelho , AI , Cassiman , D , Couce , ML , Dawson , C , Demirbas , D , Derks , T , Eyskens , F , Forga , MT , Grunewald , S , Haberle , J , Hochuli , M , Hubert , A , Huidekoper , H , Janeiro , P , Kotzka , J , Knerr , I , Labrune , P , Landau , YE , Langendonk , J , Moeslinger , D , Mueller-Wieland , D , Murphy , E , Ounap , K , Ramadza , D , Rivera , IA , Scholl-Buergi , S , Stepien , KM , Thijs , A , Tran , C , Vara , R , Visser , G , Vos , R , Vries , M , Waisbren , SE , Welsink-Karssies , MM , Wortmann , SB , Gautschi , M , Treacy , EP & Berry , GT 2019 , ' The natural history of classic galactosemia: lessons from the GalNet registry ' , Orphanet Journal of Rare Diseases , vol. 14 , 86 . https://doi.org/10.1186/s13023-019-1047-z. , 2019

Link: https://pure.eur.nl/en/p..

15

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

Rubio-Gozalbo, M. E ; Haskovic, M ; Bosch, A. M...
info:eu-repo/semantics/altIdentifier/doi/10.1186/s13023-019-1047-z. , 2019

Link: http://vu.oai.elaba.lt/d..