Results 21 to 30 of about 18,550 (219)

Glutaric acidemia type I. Report of a case and literature review

Iatreia, 2015
Glutaric acidemia type I (GA-1) is a neurological disease of metabolic ethiology. Although considered rare, it is one of the most frequent inborn errors of metabolism in Colombia.
Forero Sánchez, Edwin, Echeverri Peña, Olga Yaneth, Espinosa García, Eugenia, Guevara Morales, Johana María, Barrera Avellaneda, Luis Alejandro   +4 more
doaj   +1 more source

Who Receives Home-Based Perinatal Palliative Care: Experience from Poland [PDF]

, 2013
The current literature suggests that perinatal palliative care (PPC) programs should be comprehensive, initiated early, and integrative. So far there have been very few publications on the subject of home-based PC of newborns and neonates.
Korzeniewska-Eksterowicz, Aleksandra, Kędzierska, Bogna, Młynarski, Wojciech, Przysło, Łukasz, Stolarska, Małgorzata   +4 more
core   +4 more sources

Neurological expression of vitamin B12 deficiency in children. [PDF]

Batna Journal of Medical Sciences
The neurological presentation of vitamin B12 deficiency, although rare, can be the initial manifestation of the clinical picture, making diagnosis difficult.
Zoulikha BENHACINE, Rachid BOUHDJILA, Moufida GHARBI   +2 more
doaj   +1 more source

Sequential magnetic resonance spectroscopic changes in a patient with nonketotic hyperglycinemia [PDF]

, 2012
Nonketotic hyperglycinemia (NKH) is a rare inborn error of amino acid metabolism. A defect in the glycine cleavage enzyme system results in highly elevated concentrations of glycine in the plasma, urine, cerebrospinal fluid, and brain, resulting in ...
Applegarth, Applegarth, Eun Sun Kim, Foster, Heindel, Huisman, Hyung Doo Park, Jeong Hee Shin, Ji Hun Shin, Ji Hye Kim, Ji Mi Jung, Jin Kyu Kim, Kikuchi, Korman, Korman, Kreis, Kure, McDonald, McDonald, Mourmans, Naas, Perry, Press, Se In Sung, Snider, So Yoon Ahn, Suzuki, Viola, Won Soon Park, Yun Sil Chang, Zammarchi   +30 more
core   +1 more source

Metabolic investigations prevent liver transplantation in two young children with citrullinemia type I [PDF]

, 2010
Acute liver failure may be caused by a variety of disorders including inborn errors of metabolism. In those cases, rapid metabolic investigations and adequate treatment may avoid the need for liver transplantation.
A Dhawan, Dirk-Jan Reijngoud, DP Dimmock, Edmond H. H. M. Rings, F Endo, Francjan J. van Spronsen, Frans W. Verheijen, JM Saudubray, L Fregonese, M Summar, Maaike M. C. de Vries, Marc Eling, Marcel Cuppen, Martijn J. de Groot, MR Narkewicz, P Durand, P Keskinen, PF Whitington, RH Squires, SA Zamora, SE Olpin, SW Brusilow, T Mori, WJ Kleijer   +23 more
core   +5 more sources

Recurrent Encephalopathy During Febrile Illnesses in a 6-Year-Old Boy

Global Pediatric Health, 2018
Acute onset of encephalopathy is often due to infections or intoxications, but a high index of suspicion should exist for metabolic or autoimmune causes particularly in recurrent cases.
Eliza Szuch MD, Jeanna Auriemma MD
doaj   +1 more source

Acute Hepatic Porphyrias: Review and Recent Progress. [PDF]

, 2019
The acute hepatic porphyrias (AHPs) are a group of four inherited diseases of heme biosynthesis that present with episodic, acute neurovisceral symptoms.
Andant, Anderson, Andersson, Badawy, Balwani, Bissell, Bissell, Bloomer, Bonkovsky, Bonkovsky, Bonkovsky, Bonkovsky, Bonkowsky, Bonkowsky, Bonkowsky, Bylesjo, Chen, D’Avola, Ferrer, Glueck, Handschin, Jeans, Lambrecht, Lane, Marsden, McGuire, Pallet, Sardh, Sardh, Shen, Singal, Stein, Stewart, Tchernitchko, Wahlin, Watson, Watson, Willandt, Wu, Yarra, Yasuda   +40 more
core   +1 more source

Early neonatal Glutaric aciduria type I hidden by perinatal asphyxia: a case report

Italian Journal of Pediatrics, 2018
Background Perinatal asphyxia (PA) occurs in about 2 to 10 per 1000 live full-term births. Although neonatal epileptic seizures are observed in up to 60% of cases, PA may mimic or subtend other conditions.
Giacomo Biasucci, Nicola Morelli, Federica Natacci, Massimo Mastrangelo   +3 more
doaj   +1 more source

Orotic Aciduria [PDF]

, 2018
Orotic acid is an intermediate found in the pathway for pyrimidine synthesis. The mitochondrial enzyme dihydroorotate dehydrogenase (DHODH) catalyzes the production of orotic acid by the conversion of the compound dihydroorotate to orotic acid.
Fonteh, Aliah L
core   +1 more source

Inborn errors of metabolism: a clinical overview [PDF]

, 1999
CONTEXT: Inborn errors of metabolism cause hereditary metabolic diseases (HMD) and classically they result from the lack of activity of one or more specific enzymes or defects in the transportation of proteins.
Martins, Ana Maria
core   +4 more sources