Results 21 to 30 of about 198,582 (348)

Research, diagnosis and education in inborn errors of metabolism in Colombia: 20 years’ experience from a reference center

Orphanet Journal of Rare Diseases, 2018
The use of specialized centers has been the main alternative for an appropriate diagnosis, management and follow up of patients affected by inborn errors of metabolism (IEM).
Olga Y. Echeverri, Johana M. Guevara, Ángela J. Espejo-Mojica, Andrea Ardila, Ninna Pulido, Magda Reyes, Alexander Rodriguez-Lopez, Carlos J. Alméciga-Díaz, Luis A. Barrera   +8 more
doaj   +1 more source

Metabolomics to Improve the Diagnostic Efficiency of Inborn Errors of Metabolism

International Journal of Molecular Sciences, 2020
Early diagnosis of inborn errors of metabolism (IEM)—a large group of congenital disorders—is critical, given that many respond well to targeted therapy.
D. Mordaunt, David Cox, M. Fuller
semanticscholar   +1 more source

Blood phenylalanine fluctuation in phenylketonuric children treated by BH4 or low-phenylalanine diet from birth

Scientific Reports, 2023
The prognosis of phenylketonuria (PKU) is related to the quality of metabolic control all life-long. PKU treatment is based on a low-Phe diet, 6R-tetrahydrobiopterin (BH4) treatment for the BH4-responsive PKU patients or enzyme replacement therapy ...
Maurane Theron, Elise Jeannesson, Marie Canton, Farès Namour, Abderrahim Oussalah, François Feillet, Arnaud Wiedemann   +6 more
doaj   +1 more source

Inborn Errors of Fructose Metabolism. What Can We Learn from Them? [PDF]

, 2017
Fructose is one of the main sweetening agents in the human diet and its ingestion is increasing globally. Dietary sugar has particular effects on those whose capacity to metabolize fructose is limited.
Tran, C.
core   +2 more sources

Demographic and Clinical Findings in Pediatric Patients Affected by Organic Acidemia [PDF]

, 2016
How to Cite This Article: Najafi R, Hashemipour M, Mostofizadeh N, Ghazavi MR, Nasiri J, Shahsanai A, Famori F, Najafi F, Moafi M. Demographic and Clinical Findings in Pediatric Patients Affected by Organic Acidemia. Iran J Child Neurol.
FAMORI, Fatemeh, GHAZAVI, Mohammadreza, HASHEMIPOUR, Mahin, MOAFI, Mohammad, MOSTOFIZADEH, Neda, NAJAFI, Fatemeh, NAJAFI, Reza, NASIRI, Jafar, SHAHSANAI, Armindokht   +8 more
core   +2 more sources

Expanded newborn screening for inborn errors of metabolism by tandem mass spectrometry in newborns from Xinxiang city in China

Journal of clinical laboratory analysis (Print), 2020
Tandem mass spectrometry is a powerful technology available in China over the last 15 years. The development of tandem mass spectrometry had made it possible to rapidly screen newborns for inborn errors of metabolism.
Shujun Ma, Qinghe Guo, Zhongxin Zhang, Zhian He, Aizhi Yue, Zhishan Song, Qingwei Zhao, Xia Wang, Ruili Sun   +8 more
semanticscholar   +1 more source

The local health impacts of natural resource booms

Health Economics, Volume 32, Issue 2, Page 462-500, February 2023., 2023
Abstract This paper uses novel micro‐data on natural resources and administrative health data in Brazil to study how economic booms in minerals affect health at birth. By implementing a reduced‐form estimation of shift‐share research designs, the identification strategy relies on the exogeneity of global commodity prices to municipality‐specific health
Elisa M. Maffioli
wiley   +1 more source

Risk factors and birth prevalence of birth defects and inborn errors of metabolism in Al Ahsa, Saudi Arabia [PDF]

, 2011
BACKGROUND: Birth defects and inborn errors of metabolism are related to variable poor perinatal and neonatal outcomes. Our aim was to explore the pattern and prevalence of birth defects and metabolic birth errors in Al-Ahsa Governorate in the Eastern ...
Al Bu Ali, Waleed Hamad, Al Moghannum, Mohammed Saleh, Balaha, Magdy Hassan, Hashim, Ibrahim   +3 more
core   +3 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

Juvenile mucopolysaccharidosis plus disease caused by a missense mutation in VPS33A

Human Mutation, Volume 43, Issue 12, Page 2265-2278, December 2022., 2022
Abstract A rare and fatal disease resembling mucopolysaccharidosis in infants, is caused by impaired intracellular endocytic trafficking due to deficiency of core components of the intracellular membrane‐tethering protein complexes, HOPS, and CORVET. Whole exome sequencing identified a novel VPS33A mutation in a patient suffering from a variant form of
Elena V. Pavlova, Dorit Lev, Marina Michelson, Keren Yosovich, Hila Gur Michaeli, Nicholas A. Bright, Paul T. Manna, Veronica Kane Dickson, Karen L. Tylee, Heather J. Church, J. Paul Luzio, Timothy M. Cox   +11 more
wiley   +1 more source