Results 31 to 40 of about 26,055 (351)

Continuous Renal Replacement Therapy for Two Neonates With Hyperammonemia

Frontiers in Pediatrics, 2021
Objectives: This study aims to assess the feasibility of using hemofiltration for ammonia clearance in low body weight infants with an inborn error of metabolism.Design: A study of two cases.Setting: Quaternary pediatric hospital (Saint Louis Children's ...
Christopher Markham, Caroline Williams, Cory Miller, Dorothy K. Grange, T. Keefe Davis, Kenneth E. Remy, Kenneth E. Remy   +6 more
doaj   +1 more source

Favorable course of previously undiagnosed Methylmalonic Aciduria with Homocystinuria (cblC type) presenting with pulmonary hypertension and aHUS in a young child: a case report

Italian Journal of Pediatrics, 2018
Background Cobalamin C (cblC) defect is the most common inborn error of Vitamin B12 metabolism often causing severe neurological, renal, gastrointestinal and hematological symptoms.
Luciano De Simone, Laura Capirchio, Rosa Maria Roperto, Paola Romagnani, Michele Sacchini, Maria Alice Donati, Maurizio de Martino   +6 more
doaj   +1 more source

ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment [PDF]

, 2016
Acyl CoA Oxidase 2 (ACOX2) encodes branched-chain acyl-CoA oxidase, a peroxisomal enzyme believed to be involved in the metabolism of branched-chain fatty acids and bile acid intermediates. Deficiency of this enzyme has not been described previously.
Akyol, G, Bilgüvar, K, Clayton, PT, Dalgiç, B, Esendagli-Yilmaz, G, Günel, M, Jain, D, Lifton, RP, Mazzacuva, F, Sari, S, Vilarinho, S   +10 more
core   +1 more source

Risk of Developing Insulin Resistance in Adult Subjects with Phenylketonuria: Machine Learning Model Reveals an Association with Phenylalanine Concentrations in Dried Blood Spots

Metabolites, 2023
Phenylketonuria (PKU) is an autosomal recessive inborn error of metabolism where high phenylalanine (Phe) concentrations cause irreversible intellectual disability that can be prevented by newborn screening and early treatment. Evidence suggests that PKU
María Jesús Leal-Witt, Eugenia Rojas-Agurto, Manuel Muñoz-González, Felipe Peñaloza, Carolina Arias, Karen Fuenzalida, Daniel Bunout, Verónica Cornejo, Alejandro Acevedo   +8 more
doaj   +1 more source

Cloning of Dimethylglycine Dehydrogenase and a New Human Inborn Error of Metabolism, Dimethylglycine Dehydrogenase Deficiency [PDF]

, 2001
Dimethylglycine dehydrogenase (DMGDH) (E.C. number 1.5.99.2) is a mitochondrial matrix enzyme involved in the metabolism of choline, converting dimethylglycine to sarcosine. Sarcosine is then transformed to glycine by sarcosine dehydrogenase (E.C. number
Agnini, Claudia, Blum, Nevin, Blum, Peter, Bohaty, Steven, Bown, Paul, Friedrich, Oliver, Greenop, Rosanna, Kordesch, Wendy, Leonhardt, Dominik, Liebrand, Diederik, Lippert, Peter, van Peer, Tim, Wilson, Paul, Xuan, Chuang   +13 more
core   +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

Pineal cysts may promote pubertal development in girls with central precocious puberty: a single-center study from China

Frontiers in Endocrinology
IntroductionPineal cysts have long been considered a benign intracranial variation. However, in our clinical practice, it has been observed that some children with central precocious puberty (CPP) who have pineal cysts experience rapid progression in ...
Shuxian Yuan, Yifan Lin, Yixuan Zhao, Mengmeng Du, Shijie Dong, Yongxing Chen, Haiyan Wei   +6 more
doaj   +1 more source

Sir Archibald Garrod

Muller Journal of Medical Sciences and Research, 2013
When the history of inborn errors of metabolism is written, the name that will be mentioned foremost is that of Sir Archibald Garrod, who through his pioneering work on Alkaptonuria laid a solid foundation for this evolving specialty of medicine in the ...
K Varadaraj Shenoy, P Thara, M Sharmila
doaj   +1 more source

Carnitine Inborn Errors of Metabolism [PDF]

Molecules, 2019
Carnitine plays essential roles in intermediary metabolism. In non-vegetarians, most of carnitine sources (~75%) are obtained from diet whereas endogenous synthesis accounts for around 25%. Renal carnitine reabsorption along with dietary intake and endogenous production maintain carnitine homeostasis.
Mohammed Almannai, Majid Alfadhel, Ayman W. El-Hattab   +2 more
openaire   +3 more sources

The enigma of periorificial desquamating lesions in a child

Indian Dermatology Online Journal, 2023
Biotinidase deficiency (BD) is a rare autosomal recessive, vitamin-responsive inborn error of metabolism associated with a wide spectrum of dermatological, neurological, auditory, and metabolic abnormalities. This case report reiterates that a high index
Ankita Choudhary, Rutvi M Pandya, Rima Joshi, Bela J Shah   +3 more
doaj   +1 more source