E-LIB Suche - Ergebnisse für: Menni, Francesca

1

Deoxyguanosine kinase deficiency: natural history and liver..:

Manzoni, Eleonora ; Carli, Sara ; Gaignard, Pauline...
Brain Communications. 6 (2024) 3 - p. , 2024

Link: https://doi.org/10.1093/..

2

Parents' experience of the communication process of positiv..:

Bani, Marco ; Russo, Selena ; Raggi, Erika...
Child: Care, Health and Development. 49 (2023) 6 - p. 961-971 , 2023

Link: https://doi.org/10.1111/..

3

A biallelic variant in COX18 cause isolated Complex IV defi..:

Ronchi, Dario ; Garbellini, Manuela ; Magri, Francesca...
European Journal of Human Genetics. 31 (2023) 12 - p. 1414-1420 , 2023

Link: https://doi.org/10.1038/..

4

Hyperammonemia Syndrome After Lung Transplantation: A Doubl..:

Cattaneo, Valentina ; Caccioppola, Alessio ; Colombo, Sebastiano Maria...
Transplantation Proceedings. 55 (2023) 8 - p. 1991-1994 , 2023

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

5

CHARGE syndrome presenting with persistent hypoglycemia: ca..:

Consales, Alessandra ; Crippa, Beatrice Letizia ; Colombo, Lorenzo...
Italian Journal of Pediatrics. 48 (2022) 1 - p. , 2022

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

6

Genotype and residual enzyme activity in medium‐chain acyl‐..:

Tucci, Sara ; Wagner, Christine ; Grünert, Sarah C....
Journal of Inherited Metabolic Disease. 44 (2021) 4 - p. 916-925 , 2021

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

7

PRDX1 gene-related epi-cblC disease is a common type of inb..:

Cavicchi, Catia ; Oussalah, Abderrahim ; Falliano, Silvia...
Clinical Epigenetics. 13 (2021) 1 - p. , 2021

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

8

Multicentric Retrospective Evaluation of Five Classic Infan..:

Paoletti, Matteo ; Pichiecchio, Anna ; Colafati, Giovanna Stefania...
Frontiers in Neurology. 11 (2020) - p. , 2020

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

9

Pseudotumour cerebri associated with mycoplasma pneumoniae ..:

Maffeis, Laura ; Dilena, Robertino ; Guez, Sophie...
BMC Pediatrics. 19 (2019) 1 - p. , 2019

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

10

Long term clinical history of an Italian cohort of infantil..:

Parini, Rossella ; De Lorenzo, Paola ; Dardis, Andrea...
Orphanet Journal of Rare Diseases. 13 (2018) 1 - p. , 2018

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

11

Correction: The absence that makes the difference: choroida..:

Tucci, Arianna ; Saletti, Veronica ; Menni, Francesca...
Journal of Human Genetics. 63 (2018) 3 - p. 391-391 , 2018

Link: https://doi.org/10.1038/..

12

Nutritional Challenges in Duchenne Muscular Dystrophy:

Salera, Simona ; Menni, Francesca ; Moggio, Maurizio...
Nutrients. 9 (2017) 6 - p. 594 , 2017

Link: https://doi.org/10.3390/..

13

Late Onset Cobalamin Disorder and Hemolytic Uremic Syndrome..:

Ardissino, Gianluigi ; Perrone, Michela ; Tel, Francesca...
Case Reports in Pediatrics. 2017 (2017) - p. 1-4 , 2017

Link: https://doi.org/10.1155/..

14

Identification of an atypical microdeletion generating the ..:

Ferrari, Luca ; Scuvera, Giulietta ; Tucci, Arianna...
Human Genetics. 136 (2017) 10 - p. 1329-1339 , 2017

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

15

Muscle MRI of classic infantile pompe patients: Fatty subst..:

Pichiecchio, Anna ; Rossi, Marta ; Cinnante, Claudia...
Muscle & Nerve. 55 (2017) 6 - p. 841-848 , 2017

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