Results 101 to 110 of about 14,220 (236)

Investigating rare haematological disorders - A celebration of 10 years of the Sherlock Holmes symposia [PDF]

, 2016
The Sherlock Holmes symposia have been educating haematologists on the need for prompt recognition, diagnosis and treatment of rare haematological diseases for 10 years. These symposia, which are supported by an unrestricted educational grant from Sanofi
Bauduer, F, Bjerrum, OW, Cappellini, MD, Cassiman, D, Fraga, C, Hughes, D, Huijgens, P, Jäger, U, Machaczka, M, Marinakis, T, Massenkeil, G, Mehta, A, Rosenbaum, H, Vallejo, C, Van Droogenbroeck, J, Villarrubia, J, Wondergem, M   +16 more
core   +1 more source

Antioxidant System Disturbances, Bioenergetic Disruption, and Glial Reactivity Induced by Methylmalonic Acid in the Developing Rat Brain

Neuroglia
Background: Elevated levels of methylmalonic acid (MMA) are observed in the bodily fluids and tissues of patients with methylmalonic aciduria, a metabolic disorder characterized by manifestations such as vomiting, lethargy, muscle weakness, seizures, and
Cristiano Antonio Dalpizolo, Josyane de Andrade Silveira, Manuela Bianchin Marcuzzo, Vitor Gayger-Dias, Vanessa-Fernanda Da Silva, Camila Vieira Pinheiro, Bruno Pereira dos Santos, Tiago Franco de Oliveira, Carlos-Alberto Gonçalves, Guilhian Leipnitz   +9 more
doaj   +1 more source

Liver neoplasms in methylmalonic aciduria: An emerging complication [PDF]

Journal of Inherited Metabolic Disease, 2019
AbstractMethylmalonic aciduria (MMA) is an inherited metabolic disease caused by methylmalonyl‐CoA mutase deficiency. Early‐onset disease usually presents with a neonatal acute metabolic acidosis, rapidly causing lethargy, coma, and death if untreated.
Forny, Patrick, Hochuli, Michel, Rahman, Yusof, Deheragoda, Maesha, Weber, Achim, Baruteau, Julien, Grunewald, Stephanie   +6 more
openaire   +4 more sources

Screening Tool Improves Recognition of Movement Disorders by Internists and Paediatricians in Patients With Inherited Metabolic Diseases

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Movement disorders are common in inherited metabolic diseases (IMDs) and significantly impact quality of life. Unfortunately, they are often underrecognised by metabolic physicians. This study investigated whether a new screening tool improves recognition of movement disorders in IMD patients by non‐neurologists.
Ellen M. Hulshof, Hugo P. Lantinga, Gonnie Alkemade, Annet M. Bosch, Marion M. Brands, Danique Draaisma‐van Vliet, Andrea B. Haijer‐Schreuder, Eva M. M. Hoytema van Konijnenburg, Mirian C. H. Janssen, Melanie M. van der Klauw, Mirjam Langeveld, Charlotte M. A. Lubout, Sonja L. van Ockenburg, Esmeralda Oussoren, Bianca Panis, Barbara Sjouke, Maaike de Vries, Margreet A. E. M. Wagenmakers, Mark Wijnen, Deborah A. Sival, Marina A. J. Tijssen, Tom J. de Koning, Lisette H. Koens   +22 more
wiley   +1 more source

Cobalamin and folate status in 6 to 35 months old children presenting with acute diarrhea in Bhaktapur, Nepal [PDF]

, 2014
Background: Cobalamin and folate are essential micronutrients and are important in DNA and RNA synthesis, cell proliferation, growth, hematopoiesis, and cognitive function.
Adhikari, Ramesh K., Chandyo, Ram Krishna, Refsum, Helga, Sharma, Pushpa R., Sommerfelt, Halvor, Strand, Tor, Ulak, Manjeswori   +6 more
core   +2 more sources

An infant with an extremely rare cobalamin disorder: Methionine synthase deficiency and importance of early diagnosis and treatment

The Turkish Journal of Pediatrics, 2019
Functional methionine synthase deficiency can be separated into two classes, cobalamin (Cbl) deficiency type E (CblE) and type G (CblG), which are the result of mutations that affect methionine synthase reductase or methionine synthase, respectively ...
Çiğdem Seher Kasapkara, Ebru Yılmaz-Keskin, Ferda Özbay-Hoşnut, Meltem Akçaboy, Emine Polat, Asburçe Olgaç, Pelin Zorlu   +6 more
doaj   +1 more source

Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia [PDF]

, 2016
BACKGROUND: Inborn errors of metabolism (IEMs) are individually rare; however, they are collectively common. More than 600 human diseases caused by inborn errors of metabolism are now recognized, and this number is constantly increasing as new concepts ...
Abdullah Alzaben, Ahmed A. Alfares, Ali Al Othaim, Fuad Al Mutairi, Majid Alfadhel, Mohammad Arif Hossain, Mohammed Al Balwi, Mohammed Benmeakel, Wafaa Eyaid   +8 more
core   +1 more source

Higher vitamin B12 from mid‐ to late life is related to slower rates of cognitive decline

Alzheimer's &Dementia, Volume 21, Issue 10, October 2025.
Abstract INTRODUCTION Evidence is needed to evaluate whether low vitamin B12 from mid‐ to late life, either alone or in the presence of elevated folate, is associated with cognitive decline. METHODS Participants from the Framingham Heart Study without baseline dementia who had ≥ 2 measures of a three‐component vitamin B12 indicator (3cB12) and ...
Francesca R. Marino, Gail Rogers, Joshua W. Miller, Jacob Selhub, Jesse Mez, Paul K. Crane, Shubhabrata Mukherjee, Andrew J. Saykin, Timothy J. Hohman, Emily H. Trittschuh, Rhoda Au, Paul F. Jacques, Phillip H. Hwang   +12 more
wiley   +1 more source

Trichloroethylene and trichloroethanol-induced formic aciduria and renal injury in male F-344 rats following 12 weeks exposure [PDF]

Trichloroethylene (TCE) is widely used as a cleaning and decreasing agent and has been shown to cause liver tumours in rodents and a small incidence of renal tubule tumours in male rats.
Evans, AR, Foster, JR, Lock, EA, Yaqoob, N   +3 more
core   +1 more source

Rare inborn errors of metabolism with movement disorders: a case study to evaluate the impact upon quality of life and adaptive functioning [PDF]

, 2014
Background: Inborn errors of metabolism (IEM) form an important cause of movement disorders in children. The impact of metabolic diseases and concordant movement disorders upon children's health-related quality of life (HRQOL) and its physical and ...
Peall, Kathryn
core   +1 more source