Results 11 to 20 of about 174,613,300 (296)

Clinical pathways for inborn errors of metabolism: warranted and feasible [PDF]

Orphanet Journal of Rare Diseases, 2013
Inborn errors of metabolism (IEMs) are known for their low prevalence and multidisciplinary care mostly founded on expert opinion. Clinical pathways are multidisciplinary tools to organise care which provide a clear route to the best care and improve ...
Demirdas Serwet, van Kessel Imke N, Korndewal Marjolein J, Hollak Carla EM, Meutgeert Hanka, Klaren Anja, van Rijn Margreet, van Spronsen Francjan J, Bosch Annet M   +8 more
doaj   +2 more sources

Neonatal Seizures: When to Consider and How to Investigate for an Inborn Error of Metabolism

Proceedings of Singapore Healthcare, 2010
Seizures occur more frequently in the neonatal period than in the remainder of childhood. Neonatal seizures can have different aetiologies. Inborn errors of metabolism are rare causes of seizures in the newborn.
Derrick Wei Shih Chan B Med Sci, MRCPCH (UK), Ee Shien Tan MBBS, MRCPCH (UK), Maureen Anne Cleary MD, MRCP (UK)   +2 more
doaj   +2 more sources

Mutations in Hcfc1 and Ronin result in an inborn error of cobalamin metabolism and ribosomopathy [PDF]

Nature Communications, 2022
Combined methylmalonic acidemia (MMA) and hyperhomocysteinemias are inborn errors of vitamin B12 metabolism, and mutations in the transcriptional regulators HCFC1 and RONIN (THAP11) underlie some forms of these disorders. Here the authors generated mouse
Tiffany Chern, Annita Achilleos, Xuefei Tong, Matthew C. Hill, Alexander B. Saltzman, Lucas C. Reineke, Arindam Chaudhury, Swapan K. Dasgupta, Yushi Redhead, David Watkins, Joel R. Neilson, Perumal Thiagarajan, Jeremy B. A. Green, Anna Malovannaya, James F. Martin, David S. Rosenblatt, Ross A. Poché   +16 more
doaj   +2 more sources

Eye movement disorders in inborn errors of metabolism : A quantitative analysis of 37 patients [PDF]

, 2022
Inborn errors of metabolism are genetic disorders that need to be recognized as early as possible because treatment may be available. In late-onset forms, core symptoms are movement disorders, psychiatric symptoms, and cognitive impairment.
de Koning, Tom J,, de Koning, Tom J, de Koning, Tom J., Klouwer, Femke C C,, Klouwer, Femke C C, Leen, Wilhelmina G, Lunsing, Roelineke J, Roelineke J. Lunsing, Inge Tuitert, Marina A. J. Tijssen, Koelman, Johannes H T M, Hans Blokzijl, Marc Engelen, Johannes H. T. M. Koelman, Lisette H. Koens, Tijssen, Marina A. J., Lange, Fiete, Tuitert, Inge, Engelen, Marc, Koens, Lisette H, Femke C. C. Klouwer, Verrips, Aad,, Tijssen, Marina A J,, Lange, Fiete,, Lunsing, Roelineke J,, Leen, Wilhelmina G., Lunsing, Roelineke J., Koelman, Johannes H T M,, Leen, Wilhelmina G,, Koens, Lisette H., Blokzijl, Hans, Koelman, Johannes H. T. M., Aad Verrips, Koens, Lisette H,, Klouwer, Femke C. C., Blokzijl, Hans,, Verrips, Aad, Tijssen, Marina A J, Fiete Lange, Wilhelmina G. Leen, Engelen, Marc,, Tuitert, Inge,, Lund University., Tom J. de Koning, Koens, Lisette H; id_orcid   +44 more
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Hyperargininemia Due to Arginase 1 Deficiency: Variability in Clinical and Biochemical Presentations in Malaysian children

Clinical Pathology, 2022
Objective: Hyperargininemia due to Arginase 1 deficiency is a rare inborn error of the urea cycle with an incidence estimated at 1:950 000. It has typical severe and progressive abnormal neurological features with biochemical findings of hyperargininemia
Anasufiza Habib, Norashareena Mohamed Shakrin   +1 more
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Tandom Mass Spectrometry in Neonates Suspected to have Inborn Errors of Metabolism [PDF]

Annals of Neonatology Journal, 2022
Background: Inborn errors of metabolism (IEM) are a diverse collection of genetic abnormalities that are a significant source of illness and death in children.Objectives: To determine the prevalence of IEM in newborns with suspected IEM and to diagnosis ...
Mahmoud Shames El-dine, Abdel-Azeem El-Mazary, Moustafa Abo-Elela, Ashraf Abdel-Fadil   +3 more
doaj   +1 more source

Isovaleric Acidemia as a Rare Cause for Bad Obstetric History [PDF]

Journal of Clinical and Diagnostic Research, 2021
Isovaleric acidemia is an inborn error of metabolism, inherited as an autosomal recessive disorder, caused by deficiency of isovalerylCoenzyme A (CoA) dehydrogenase, leading to elevated plasma isovaleric acid and urine isovalerylglycine levels ...
Sailatha Ramanujam, Shery Angel, Anuradha Coimbatore Ramachandran, Anu Bhargavi Basker   +3 more
doaj   +1 more source

Methylmalonic Acidemia- A Rare Inborn Error of Metabolism [PDF]

Indian Journal of Neonatal Medicine and Research, 2016
The methylmalonic acidemias (MMA) are a heterogeneous group of autosomal recessive inborn errors of organic acid metabolism. The hallmark of MMA is hyperammonemia, encephalopathy and metabolic acidosis in infancy and especially so in neonatal age ...
Charusheela Sujit Korday, Rahul Ramnath Holkar, Shruti Sudhir Jadhav, Maaz Ahmed, Sushma Malik   +4 more
doaj   +1 more source

A rare but treatable inborn error of metabolism: Arginine:glycine amidinotransferase (AGAT) deficiency [PDF]

Romanian Journal of Pediatrics, 2022
AGAT deficiency is a rare and treatable autosomal recessive disorder. The symptoms are early-onset developmental mild to moderate intellectual disability, delayed speech acquisition, behavioral problems or proximal muscle weakness.
Sebastian Romeo Pintilie, Adriana Fodor, Marius Bembea, Codruta Diana Petchesi, Simona Grad, Laura Damian, Romana Vulturar   +6 more
doaj   +1 more source

Proteinuria and progressive kidney failure due to an inborn error of metabolism: Questions

, 2021
A 6-year-old patient was admitted to our clinic with a suspected diagnosis of an inborn error of metabolism (IEM). He was born at term with a birth weight of 3620 g with an uneventful delivery. He was the first child of nonconsanguineous Turkish parents,
Yavaş, Aynur Küçükçongar, Ünal Uzun, Özlem, Kiremitçi, Saba, Cengiz, Nurcan, Uzun, ÖZLEM, Çavdarlı, Büşra, Bayrakçı, Umut, Küçükçongar Yavaş, Aynur, Çavdarlı, BÜŞRANUR, Bayrakçı, UMUT SELDA, Uzun, Özlem Ünal   +10 more
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