Results 61 to 70 of about 12,812 (223)

L-2-hydroxyglutaric aciduria: A case report [PDF]

, 2014
Introduction. L-2-Hydroxyglutaric aciduria (L-2-HGA) is an autosomal recessive neurometabolic disease with a slowly progressive course and characterized by increased levels of hydroxyglutaric acid in urine, cerebrospinal fluid and plasma.
Jović Nebojša J., Koprivšek Katarina, Kosać Ana   +2 more
core   +1 more source

Glutaric Aciduri Type II, with Rhabdomyolysis and Acute Renal Failure Presentation in 10 Years Old Girl

Bihdād, 2020
Introduction: Myopathy and rhabdomyolysis are not common in children and, if not detected and do not treated it will be associated with high mortality and morbidity rate. The causes of rhabdomyolysis include hypokalemia, trauma, viral myositis, poisoning,
Bahareh Yaghmaie, Fatemeh Sayarifard, Amir Hossein Noohi   +2 more
doaj  

Generation of an induced pluripotent stem cell line carrying a biallelic deletion (SCTCi019-A) in GCDH using CRISPR/Cas9

Stem Cell Research, 2023
GCDH encodes for the enzyme catalyzing the sixth step of the lysine catabolism pathway. Biallelic pathogenic variants in GCDH have been associated with glutaric aciduria type 1 (GA1).
Imke M.E. Schuurmans, Ka M. Wu, Clara D.M. van Karnebeek, Nael Nadif Kasri, Alejandro Garanto   +4 more
doaj   +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

Family planning decisions for parents of children with a rare genetic condition: a scoping review [PDF]

, 2017
Expansion of newborn screening programmes increases the complexity around reproductive choices, both in terms of the increased number of parents faced with making reproductive decisions from the earliest days of their affected child's life, and the ...
Armstrong, Atkin, Benn, Bexhell, Boardman, Bustamante-Aragonés, Current status of newborn screening worldwide, Damle, de Bocanegra, Dudding, Duff, Fidika, Gramer, Götz, Hayeems, Henneman, Hill, Joy, Kelly, Levac, Lindner, Myring, National Institutes of Health Consensus Development Panel, Nennstiel-Ratzel, Oerton, Peters, Pham, Pourfarzam, Read, Sawyer, Schultz, Timmermans, Torkelson, Wilcken, Winner   +34 more
core   +1 more source

Hallazgos neurorradiológicos de la Acidosis Glutárica tipo I [PDF]

, 2007
Glutaric aciduria type I is a rare disorder of organic acid metabolism caused by deficiency of glutaryl-CoA dehydrogenase, a mitochondrial enzyme. Improper degeneration of amino acids: tryptophan, lysine, and hydroxylysine, results in
Garcia-de-Eulate, R. (Reyes), Larrache, J. (Javier), Luis, E. (Esther) de, Narbona, J. (Juan), Zubieta, J.L. (José L.)   +4 more
core  

Expanded carrier screening: A current perspective [PDF]

, 2018
Prenatal carrier screening has expanded to include a large number of genes offered to all couples considering pregnancy or with an ongoing pregnancy.
Al-Kouatly, Hb, Berghella, V, Carbone, Luigi, D'Alessandro, P, De Vivo, V, Esposito, G, Giuliani, Arduino, Maruotti, Gm, Mastantuoni, Enrica, Paternoster, M, Raffone, A, Saccone, G, Zullo, F.   +12 more
core   +1 more source

Exploring genotype–phenotype correlations in glutaric aciduria type 1

Journal of Inherited Metabolic Disease, 2023
Glutaric aciduria type 1 (GA1) is a rare neurometabolic disease caused by pathogenic variants in the gene encoding the enzyme glutaryl‐CoA dehydrogenase (GCDH).
I. Schuurmans, Bianca Dimitrov, J. Schröter, A. Ribes, R. Pérez de la Fuente, B. Zamora, C. V. van Karnebeek, S. Kölker, A. Garanto   +8 more
semanticscholar   +1 more source

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

Glutaric aciduria type 2 presenting with acute respiratory failure in an adult

Respiratory Medicine Case Reports, 2015
Glutaric aciduria (GTA) type II can be seen as late onset form with myopathic phenotype. We present a case of a 19-year old female with progressive muscle weakness was admitted in intensive care unit (ICU) with respiratory failure and acute renal failure.
Ebru Ortac Ersoy, Dorina Rama, Özlem Ünal, Serap Sivri, Arzu Topeli   +4 more
doaj   +1 more source