Results 71 to 80 of about 22,929 (214)

Pulmonary Involvement in Adult Patients with Inborn Errors of Metabolism [PDF]

, 2017
Christel Tran, Frédéric Barbey, Romain Lazor, Luisa Bonafé   +3 more
openalex   +1 more source

The microbiome and inborn errors of metabolism: Why we should look carefully at their interplay?

, 2018
Karina Colonetti, Luiz Fernando Würdig Roesch, Ida Vanessa Döederlein Schwartz   +2 more
openalex   +1 more source

Diet and lifestyle of adult with inborn errors of metabolism (IEM) during Covid 19 pandemic [PDF]

, 2020
Nicola Vitturi, Giorgia Gugelmo, Steven J. Shiff, Livia Lenzini, Evellyn Claudia Wietzikoski Lovato, Francesco Francini‐Pesenti   +5 more
openalex   +1 more source

Retraction notice to “Case-control study about the acceptance of Pegvaliase in Phenylketonuria” Molecular Genetics and Metabolism Reports 22 (2020) 100557.

Molecular Genetics and Metabolism Reports, 2021
Johannes Krämer
doaj   +1 more source

Development of medicines for rare diseases and inborn errors of metabolism: Toward novel public–private partnerships [PDF]

, 2023
Noa Rosenberg, Nina N. Stolwijk, Sibren van den Berg, Joris J. Heus, Vincent van der Wel, Teun van Gelder, Annet M. Bosch, Saco J. de Visser, Carla E. M. Hollak   +8 more
openalex   +1 more source

The Ehlers–Danlos Syndromes against the Backdrop of Inborn Errors of Metabolism [PDF]

, 2022
Tim Van Damme, Marlies Colman, Delfien Syx, Fransiska Malfait   +3 more
openalex   +1 more source

Neurogenetic and inborn errors of metabolism in pediatrics: A case series highlighting phenotypic diversity and treatable presentations [PDF]

Alok Bhutada, G Yogeshwar, Aniraban Mahanta, Papori Borah, Marami Das, Munindra Goswami   +5 more
openalex   +1 more source

Metabolomic studies in the inborn error of metabolism alkaptonuria reveal new biotransformations in tyrosine metabolism

, 2021
Brendan P. Norman, Andrew Davison, Juliette H. Hughes, Hazel Sutherland, Peter J. Wilson, Neil G. Berry, Andrew T. Hughes, Anna M. Milan, Jonathan C. Jarvis, Norman B. Roberts, L. Ranganath, George Bou–Gharios, James A. Gallagher   +12 more
openalex   +1 more source

O04: Developing a framework for sequence variant interpretation for multiple X-linked inborn errors of metabolism: The ClinGen IEM Working Group Experience

, 2023
Emily Groopman, Amanda Thomas‐Wilson, Shruthi Mohan, Jennifer Goldstein, Meredith Weaver, Raquel Fernandez, Heidi Wallis, Ljuba Caldovic, Nicholas Ah Mew, Irene De Biase, Ann B. Moser, Sharon F. Suchy, Tatiana Yuzyuk, Sarah Young, Saadet Mercimek‐Andrews, Nancy Braverman, Rong Mao   +16 more
openalex   +1 more source

Development and application targeted NGS panels in the selective screening algorithm for inborn errors of metabolism. An experience of the St. Petersburg Medical and Genetic Center

, 2020
Ю. А. Чурюмова, Н. В. Вохмянина, Stefanida Shliaga, Т. В. Вавилова, Tamara Simakova, М. А. Зайцева, A. Pavlov   +6 more
openalex   +2 more sources