3D Printing of Dietary Products for the Management of Inborn Errors of Intermediary Metabolism in Pediatric Populations [PDF]
The incidence of Inborn Error of Intermediary Metabolism (IEiM) diseases may be low, yet collectively, they impact approximately 6–10% of the global population, primarily affecting children. Precise treatment doses and strict adherence to prescribed diet
Alvarez-Lorenzo, C +7 more
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Desordens no metabolismo dos aminoácidos [PDF]
, 2013 Projeto de Pós-Graduação/Dissertação apresentado à Universidade Fernando Pessoa como parte dos requisitos para obtenção do grau de Mestre em Ciências FarmacêuticasOs erros inatos do metabolismo consistem numa condição genética em que ocorre uma mutação ...
Costa, Sofia Ferreira da
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Identification and functional characterization of a novel homozygous intronic variant in the fumarylacetoacetate hydrolase gene in a Chinese patient with tyrosinemia type 1. [PDF]
BMC Med Genomics, 2022 Chen J, Sun J, Li X, Du M.
europepmc +1 more source
Newborn Screening By Tandem Mass Spectrometry: Impacts, Implications and Perspectives [PDF]
, 2012 Dominique Guérette +5 more
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Syndrome of Inappropriate Antidiuretic Hormone Secretion in a Patient with Uncontrolled Tyrosinaemia Type 1. [PDF]
Sultan Qaboos Univ Med J, 2021 Al-Hinai A +3 more
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Envolvimento do metabolismo energético, fator neurotrófico e atividade da enzima acetilcolinesterase no efeito da l-tirosina em ratos com diferentes fases de desenvolvimento [PDF]
, 2014 Tese de Doutorado apresentada ao Programa de Pós-Graduação em Ciências da Saúde da Universidade do Extremo Sul Catarinense – UNESC, para obtenção do título de Doutora em Ciências da Saúde.A tirosinemia tipo II é causada pela deficiência autossômica ...
Ferreira, Gabriela Kozuchovski
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Hawkinsinuria clinical practice guidelines: a Mexican case report and literature review. [PDF]
J Int Med Res, 2020 Cruz-Camino H +6 more
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Evaluation of a New 'Mix-In' Style Glycomacropeptide-Based Protein Substitute for Food and Drinks in Patients with Phenylketonuria and Tyrosinemia. [PDF]
Nutrients, 2023 Delsoglio M +17 more
europepmc +1 more source
Ανάλυση Μικροσυστοιχιών RΝΑ στην περίπτωση έκθεσης σε Σωματιδιακή Ακτινοβολία με έμφαση στην Ραδιοθεραπεία. [PDF]
, 2019 Η ιοντίζουσα ακτινοβολία ορίζεται ως η ενέργεια που διέρχεται μέσα από την ύλη, προκαλεί μεταβολές στους μοριακούς δεσμούς των ατόμων και οδηγεί στην δημιουργία ιόντων. Πολλές μελέτες έως τώρα περιγράφουν την επίδραση της στα βιολογικά συστήματα αλλά και
Tatsi Konstantina +1 more
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HPDL, a yet uncharacterised mitochondrial enzyme: from cloning to first biophysical characterisation [PDF]
openHuman 4-hydroxyphenylpyruvate dioxygenase-like (HPDL) is a largely uncharacterised, nuclear-encoded mitochondrial enzyme, expressed mainly in the central nervous system.
PALOSCIA, GIANMARCO
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