Results 41 to 50 of about 4,345 (141)

Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: A retrospective observational study [PDF]

, 2016
BACKGROUND: Isovaleric aciduria (IVA), propionic aciduria (PA) and methylmalonic aciduria (MMA) are inherited organic acidurias (OAs) in which impaired organic acid metabolism induces hyperammonaemia arising partly from secondary deficiency of N ...
Baruteau, J, Cano, A, Chakrapani, A, Coker, M, Couce, ML, Del Toro, M, Delgado, MB, Donati, MA, Garcia-Cazorla, A, Gil-Ortega, D, Gomez-De Quero, P, Guffon, N, Hofstede, FC, Kalkan-Ucar, S, Lama-More, R, Le Mouhaer, J, Martinez-Pardo Casanova, M, Molina, A, Papadia, F, Pichard, S, Plisson, C, Rosello, P, Valayannopoulos, V   +22 more
core   +1 more source

Peripheral Nervous System Involvement in Late-Onset Cobalamin C Disease?

Frontiers in Neurology, 2020
Background: Cobalamin C (cblC) has a fundamental role in both central and peripheral nervous system function at any age. Neurologic manifestations may be the earliest and often the only manifestation of hereditary or acquired cblC defect.
Xujun Chu, Lingchao Meng, Wei Zhang, Jinjun Luo, Zhaoxia Wang, Yun Yuan   +5 more
doaj   +1 more source

Case report: A late-onset cobalamin C defect first presenting as a depression in a teenager

Frontiers in Genetics, 2022
Background: The cobalamin C (cblC) defect, a common inborn disorder of cobalamin metabolism due to a genetic mutation in MMACHC, can cause combined methylmalonic acid and homocysteine accumulation in blood, urine, or both.
Siqi Cheng, Weihong Chen, Mingmin Zhao, Xing Xing, Lei Zhao, Bowen Ren, Na Li   +6 more
doaj   +1 more source

An update on vitamin B12-related gene polymorphisms and B12 status. [PDF]

, 2018
Vitamin B12 is an essential micronutrient in humans needed for health maintenance. Deficiency of vitamin B12 has been linked to dietary, environmental and genetic factors. Evidence for the genetic basis of vitamin B12 status is poorly understood. However,
A Adaikalakoteswari, A Adaikalakoteswari, A Barnabe, A Hazra, A Hazra, A McCaddon, A Shiran, A Stanislawska-Sachadyn, A Tamura, A. Adaikalakoteswari, AA Seyerle, AB Hall, AC Alessio, AC Alessio, B Annibale, B Fowler, B Franke, B Schwahn, B Seetharam, BH Thuesen, BM Riedel, BS Sheu, C Chery, CJ Boushey, D Coelho, D Hu, DJ Smyth, E De Mattia, E Lahner, EL Kurnat-Thoma, EV Quadros, EV Quadros, F Cobayashi, F Keyfi, F Namour, F Pangilinan, F Zhao, FM Faraci, G Lauc, HJ Porck, HS Lee, I. A. Shatwaan, J Al-Tahan, J Johnston, J Johnston, J Kim, J Kumar, J Li, J Serpa, J Wang, J Wuerges, J. A. Lovegrove, JC Deme, JC Fyfe, JF Arendt, JF Arendt, JK Goodrich, JL Donato, JL Kutok, JP Lerner-Ellis, JW Zinck, K Kaptan, K Lechner, K. S. Vimaleswaran, KA Roecklein, KM von Castel-Dunwoody, KR Dholakia, L Strittmatter, L Strittmatter, L Zhao, M Aminoff, M Azevedo, M Drogemuller, M Soejima, M Tong, MG Garrod, MG van Oijen, N Grarup, N Kato, N Korotkova, N Sukumar, P Haggarty, P Haggarty, P Wacklin, P. Saravanan, R Castro, R Kozyraki, S Brustolin, S Henry, S Hustad, S Shahab-Ferdows, S. Surendran, SE Nilsson, SK Moestrup, SP Stabler, SP Yip, T Andrew, T Kudo, T Takahashi-Iñiguez, T Tanaka, TB Shows, V Fettelschoss, VS Tanwar, WS Bush, X Li, X Lin, Y Goto   +106 more
core   +2 more sources

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

Differential diagnosis of (inherited) amino acid metabolism or transport disorders [PDF]

, 1992
__Abstract__ Disorders of amino acid metabolism or transport are most clearly expressed in urine. Nevertheless the interpretation of abnormalities in urinary amino acid excretion remains difficult. An increase or decrease of almost every amino acid in
Blom, W.A.M. (Wim), Huijmans, J.G.M. (Jan)   +1 more
core   +2 more sources

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Exclusive neuronal expression of SUCLA2 in the human brain [PDF]

, 2013
SUCLA2 encodes the ATP-forming subunit (A-SUCL-) of succinyl-CoA ligase, an enzyme of the citric acid cycle. Mutations in SUCLA2 lead to a mitochondrial disorder manifesting as encephalomyopathy with dystonia, deafness and lesions in the basal ganglia ...
A Kowluru, A Minelli, A Navarro-Sastre, A Rotig, A Vozza, AA Gerencser, AC Yu, Aniko Gál, Arpád Dobolyi, Attila G. Bagó, B Przybyla-Zawislak, C Chinopoulos, C Chinopoulos, C Chinopoulos, C Chinopoulos, C Chinopoulos, C Miller, Christos Chinopoulos, DO Lambeth, E Brekke, E Ostergaard, E Ostergaard, E Ostergaard, E Ostergaard, E Pfaff, EE McKee, EE McKee, EF Kadrmas, Elsebet Ostergaard, F Conti, F Conti, G Kiss, JC Wallace, JD Johnson, JH Ottaway, L Milon, M Lopes-Cardozo, M Palkovits, M Thomson, Miklós Palkovits, ML Pall, Mária J. Molnár, N Westergaard, O Elpeleg, R Carrozzo, R Dringen, RF Labbe, RL Strausberg, RP Shank, S Tanner, Tamás Dóczi, TM Jenkins, U Sonnewald, Vera Adam-Vizi, X Li, Z Zhang   +55 more
core   +2 more sources

The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007–2023

Acta Ophthalmologica, EarlyView.
Abstract Purpose To analyse the frequency and type of coexisting systemic disorders in children operated on for cataract in Sweden. Methods Data were retrieved from the Swedish National Pediatric Cataract Register (PECARE) for children operated between January 1, 2007, and December 31, 2023 (n = 975), including follow‐ups at age 1, 2, 5 and 10 ...
David Wackerberg, Jenny Gyllén, Birgitte Haargaard, Alf Nyström, Arzu Karatepe Hashas, Anna Linnarsson Wiklund, Eric Trocmé, Ulrika Kjellström, Kristina Tornqvist, Gunilla Magnusson   +9 more
wiley   +1 more source