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1

Feasibility and Acceptability of a Newborn Screening Progra..:

Dangouloff, Tamara ; Hovhannesyan, Kristine ; Mashhadizadeh, Davood...
Children. 11 (2024) 8 - p. 926 , 2024

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

2

Baby detect: Universal genomic newborn screening for early,..:

Dangouloff, Tamara ; Hovhannesyan, Kristine ; Piazzon, Flavia...
Journal of the Neurological Sciences. 455 (2023) - p. 121259 , 2023

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

3

Allan-Herndon-Dudley syndrome in a female patient and relat..:

Olivati, Caroline ; Favilla, Bianca Pereira ; Freitas, Erika Lopes...
Molecular Genetics and Metabolism Reports. 31 (2022) - p. 100879 , 2022

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

4

Consensus guidelines for the diagnosis and management of py..:

Coughlin II, Curtis R. ; Tseng, Laura A. ; Abdenur, Jose E....
Journal of Inherited Metabolic Disease. 44 (2020) 1 - p. 178-192 , 2020

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

5

Sonography of the distal femoral epiphysis in the etiologic..:

Freire, Ronald ; Becalli, Marina ; Murad, Mylene...
Journal of Clinical Ultrasound. 49 (2020) 2 - p. 135-140 , 2020

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

6

International best practice for the evaluation of responsiv..:

Muntau, Ania C. ; Adams, Darius J. ; Bélanger-Quintana, Amaya...
Molecular Genetics and Metabolism. 127 (2019) 1 - p. 1-11 , 2019

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

7

Thrombotic microangiopathy caused by methionine synthase de..:

Vaisbich, Maria Helena ; Braga, Andressa ; Gabrielle, Maria...
Pediatric Nephrology. 32 (2017) 6 - p. 1089-1092 , 2017

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

8

Life-Saving Treatments for Spinal Muscular Atrophy: Global ..:

Armengol, Victor D. ; Darras, Basil T. ; Abulaban, Ahmad A....
Neurology Clinical Practice. 14 (2024) 1 - p. , 2024

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

9

Influence of blood phenylalanine level variations on the de..:

de Almeida Duarte, Cristiane Mendes ; Piazzon, Flavia Balbo ; Rocco, Isadora Salvador.
Jornal de Pediatria. 99 (2023) 5 - p. 507-513 , 2023

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

10

Pseudohipoaldosteronism Type 1: a case report supported by ..:

Fernandes, Natália Cavalheiro Braz ; Simensato, Davi Cassiano Ueda ; Vizzotto, Leonardo Jordan Hansen...
International Journal of Nutrology. 15 (2022) 3 - p. , 2022

Link: https://doi.org/10.54448..

11

CEDNIK syndrome in a Brazilian patient with compound hetero..:

Nunes, Natália ; Zamariolli, Malú ; Dantas, Anelisa Gollo...
European Journal of Medical Genetics. 65 (2022) 3 - p. 104440 , 2022

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

12

Electrical storm treated successfully in a patient with TAN..:

Scuotto, Frederico ; Silva Jardim, Maria Fernanda ; Piazzon, Flávia Balbo...
HeartRhythm Case Reports. 6 (2020) 5 - p. 256-260 , 2020

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

13

Biochemical profile in an infant with neonatal hemochromato..:

Bastos, Karina Lucio de Medeiros ; Quaio, Caio Robledo ; Lima, Fabiana Roberto...
Clinical and Molecular Hepatology. 25 (2019) 1 - p. 86-91 , 2019

Link: https://doi.org/10.3350/..

14

Cytogenomic assessment of the diagnosis of 93 patients with..:

Zanardo, Évelin Aline ; Dutra, Roberta Lelis ; Piazzon, Flavia Balbo...
Clinics. 72 (2017) 9 - p. 526-537 , 2017

Link: https://doi.org/10.6061/..

15

Post-mortem cytogenomic investigations in patients with con..:

Dias, Alexandre Torchio ; Zanardo, Évelin Aline ; Dutra, Roberta Lelis...
Experimental and Molecular Pathology. 101 (2016) 1 - p. 116-123 , 2016

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

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