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101

Avanços no diagnóstico das doenças mitocondriais através da sequenciação de nova geração

by Célia, Nogueira

Published 2018

Other Authors: “...Vilarinho, Laura...”
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102

Lipid, Oxidative and Inflammatory Profile and Alterations in the Enzymes Paraoxonase and Butyrylcholinesterase in Plasma of Patients with Homocystinuria Due CBS Deficiency: The Vit...

by Vanzin, C.S.

Published 2015

Other Authors: “...Vilarinho, Laura...”
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103

NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann‐Pick type C patient

by Encarnação, Marisa

Published 2020

Other Authors: “...Vilarinho, Laura...”
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104

Fenilcetonúria em Portugal: 40 anos de rastreio neonatal (1979-2019)

by Ferreira, Filipa

Published 2020

Other Authors: “...Vilarinho, Laura...”
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105

Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency

by Huemer, Martina

Published 2017

Other Authors: “...Vilarinho, Laura...”
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106

Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency

by Huemer, Martina

Published 2016

Other Authors: “...Vilarinho, Laura...”
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107

Regulatory landscape of providing information on newborn screening to parents across Europe

by Franková, Věra

Published 2020

Other Authors: “...Vilarinho, Laura...”
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108

Newborn screening for sickle cell disease in Europe: recommendations from a Pan-European Consensus Conference

by Lobitz, Stephan

Published 2018

Other Authors: “...Vilarinho, Laura...”
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109

Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement

by Kaiyrzhanov, Rauan

Published 2022

Other Authors: “...Vilarinho, Laura...”
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110

Newborn screening for homocystinurias: Recent recommendations versus current practice

by Keller, Rebecca

Published 2019

Other Authors: “...Vilarinho, Laura...”
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111

Newborn screening for homocystinurias: recent recommendations versus current practice

by Keller, Rebecca

Published 2018

Other Authors: “...Vilarinho, Laura...”
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112

European survey of newborn bloodspot screening for CF: opportunity to address challenges and improve performance

by Munck, Anne

Published 2022

Other Authors: “...Vilarinho, Laura...”
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