Results 11 to 20 of about 585 (187)

Out-of-pocket health expenditures in patients living with ınborn errors of metabolism

Orphanet Journal of Rare Diseases, 2023
Aim The implementation of newborn screening programs for inborn errors of metabolism has advanced the diagnosis and management of affected infants and undoubtedly improved their outcomes.
Mehmet Gündüz, Yasemin Yüksel Güdek, Çiğdem Seher Kasapkara   +2 more
doaj   +2 more sources

Metabolic Diet App Suite for inborn errors of amino acid metabolism

Molecular Genetics and Metabolism, 2016
Background: An increasing number of rare inborn errors of metabolism (IEMs) are amenable to targeted metabolic nutrition therapy. Daily adherence is important to attain metabolic control and prevent organ damage.
Houben, Roderick F. A., Ueda, Keiko, Giezen, Alette, Ho, Gloria, Cheng, Barbara, Joa, Jeff, van Karnebeek, Clara D. M.   +6 more
core   +4 more sources

AminoApp: The First Brazilian Application for Dietary Monitoring of Inborn Errors of Metabolism in Patients on a Low-Protein Diet [PDF]

Healthcare Informatics Research
Objectives Disorders of amino acid metabolism fall under the category of inborn errors of metabolism that can be managed with a protein-restricted diet.
Bianca Fasolo Franceschetto, Júlia Montim Orlandi, Wanessa de Carvalho Rosa, Mariana Lima Scortegagna, Lilia Farret, Ida V. D. Schwartz, Soraia Poloni   +6 more
doaj   +2 more sources

Detection of other inborn errors of metabolism in hyperphenylalaninemic babies picked up on narrow-spectrum screening programs

The Turkish Journal of Pediatrics, 2012
In many countries, neonatal screening programs have been unable to expand and have been limited to a few diseases. We highlight herein the opportunity available for the early detection of some inborn errors of metabolism (IEMs) in those countries ...
Ozlem Unal, Burcu Oztürk-Hişmi, Turgay Coşkun, Ayşegül Tokatlı, Ali Dursun, Hatice Serap Sivri   +5 more
doaj   +4 more sources

Metabolic interplay between peroxisomes and other subcellular organelles including mitochondria and the endoplasmic reticulum [PDF]

Frontiers in Cell and Developmental Biology, 2016
Peroxisomes are unique subcellular organelles which play an indispensable role in several key metabolic pathways which include: (1.) etherphospholipid biosynthesis; (2.) fatty acid beta-oxidation; (3.) bile acid synthesis; (4.) docosahexaenoic acid (DHA)
Ronald J.A. Wanders, Hans R. Waterham, Sacha eFerdinandusse   +2 more
doaj   +2 more sources

Earwax: A potentially useful medium to identify inborn errors of metabolism? [PDF]

JIMD Reports, 2020
Earwax was investigated as a source to identify patients' different inborn errors of metabolism (IEMs). Acylcarnitines, amino acids, and guanidino metabolites were measured from 28 treated patients with 11 different metabolic disorders including 3 ...
Stefan Krywawych, Maureen Cleary, Mel McSweeney, Simon Heales   +3 more
doaj   +2 more sources

Analysis of Catecholamines and Pterins in Inborn Errors of Monoamine Neurotransmitter Metabolism—From Past to Future

Cells, 2019
Inborn errors of monoamine neurotransmitter biosynthesis and degradation belong to the rare inborn errors of metabolism. They are caused by monogenic variants in the genes encoding the proteins involved in (1) neurotransmitter biosynthesis (like tyrosine
Sabine Jung-Klawitter, Oya Kuseyri Hübschmann   +1 more
doaj   +2 more sources

ALK1 controls hepatic vessel formation, angiodiversity, and angiocrine functions in hereditary hemorrhagic telangiectasia of the liver

Hepatology, EarlyView., 2022
Hepatic endothelial Alk1 signaling protects from development of vascular malformations while maintaining organ‐specific endothelial differentiation and angiocrine portmanteau of the names Wingless and Int‐1 signaling. Abstract Background and Aims In hereditary hemorrhagic telangiectasia (HHT), severe liver vascular malformations are associated with ...
Christian David Schmid, Victor Olsavszky, Manuel Reinhart, Vanessa Weyer, Felix A. Trogisch, Carsten Sticht, Manuel Winkler, Sina W. Kürschner, Johannes Hoffmann, Roxana Ola, Theresa Staniczek, Joerg Heineke, Beate K. Straub, Jens Mittler, Kai Schledzewski, Peter ten Dijke, Karsten Richter, Steven Dooley, Cyrill Géraud, Sergij Goerdt, Philipp‐Sebastian Koch   +20 more
wiley   +1 more source

Inborn errors of enzymes in glutamate metabolism [PDF]

, 2020
Glutamate is involved in a variety of metabolic pathways. We reviewed the literature on genetic defects of enzymes that directly metabolise glutamate, leading to inborn errors of glutamate metabolism.
Verhoeven-Duif, Nanda, Peter M. van Hasselt, Jans, Judith Jm, Lynne Rumping, Vringer, Esmee, Roderick H. J. Houwen, Nanda M. Verhoeven‐Duif, van Hasselt, Peter M, Judith J. M. Jans, Houwen, Roderick Hj, Esmee Vringer, Rumping, Lynne   +11 more
core   +1 more source

Breastfeeding and inborn errors of amino acid and protein metabolism: a spreadsheet to calculate optimal intake of human milk and disease-specific formulas [PDF]

, 2023
Human milk (HM) offers important nutritional benefits. However, except for phenylketonuria (PKU), there are little data on optimal levels of consumption of HM and a special formula free of disease-related amino acids (SF-AA) in infants with inborn errors
Mónica García-Peris, González-Lamuño Leguina, Domingo, Couce, María-Luz, García-Peris, Mónica, Vitoria-Miñana, Isidro, Patricia Correcher-Medina, Correcher-Medina, Patricia, Isidro Vitoria-Miñana, María-Luz Couce, Domingo González-Lamuño   +9 more
core   +1 more source