Results 121 to 130 of about 4,483 (224)

Lactante de 9 meses con convulsiones [PDF]

, 2008
- Datos Clínicos. - Antecedentes personales. - Enfermedad actual.
Fabi, Mariana, Zubiri, Cecilia
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Symptom [PDF]

Genetic Information Not a rare disease but incidence is unknown. No known population at increased risk. ETF alpha subunit: 15q23-25 ETF beta subunit 19q13.3 No known common mutations.
Autosomal Recessive
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Dystonic opisthotonus: A "red flag" for neurodegeneration with brain iron accumulation syndromes? [PDF]

, 2013
Back arching was reported in one of the very first patients with neurodegeneration with brain iron accumulation syndrome (NBIAs) published in 1936. However, recent reports have mainly focused on the genetic and imaging aspects of these disorders, and the
Aggarwal, A, Batla, A, Bhatia, KP, Bhatt, M, Houlden, H, Lai, SC, Lu, C-S, Schneider, SA, Stamelou, M, Yeh, T-H   +9 more
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Disorders of Fatty Acid Oxidation in the Era of Tandem Mass Spectrometry in Newborn Screening

, 2008
With recent advances in laboratory technology with tandem mass spectrometry (MS/MS), the number of infants identified with a fatty acid oxidation disorder has increased dramatically.
Banta-Wright, Sandra A., Bennett, Michael J., Shelton, Kathleen C.   +2 more
core   +1 more source

Targeting specific nutrient deficiencies in proteinrestricted diets: some practical facts in PKU dietary management [PDF]

, 2014
Among aminoacidopathies, phenylketonuria (PKU) is the most prevalent one. Early diagnosis in the neonatal period with a prompt nutritional therapy (low natural-protein and phenylalanine diet, supplemented with phenylalanine-free amino acid mixtures and ...
Almeida, Manuela F., Alves, Rita C., Costa, Anabela S. G., Delerue-Matos, Cristina, Fernandes, Telmo J. R., Oliva-Teles, M. Teresa, Oliveira, M. Beatriz P. P., Pimentel, Filipa B., Torres, Duarte   +8 more
core   +1 more source

Role of glutaric aciduria type 1 in movement disorders

Annals of Movement Disorders, 2022
Jamir P Rissardo, Ana L Fornari Caprara
doaj   +1 more source

Not So Rare: Errors of Metabolism during the Neonatal Period

, 2003
During the neonatal period, the diagnosis of an error of metabolism (EM) was once thought to portend a poor prognosis or lethality. Over the past two decades, the prognosis of many EMs has changed.
Banta-Wright, Sandra, Steiner, Robert D.
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Diagnosis of glutaric aciduria type I based on neuroradiological findings: when neonatal screening fails [PDF]

Background: Glutaric aciduria type I (GA-I) is an autosomal recessive disorder affecting the metabolism of lysine, hydroxylysine, and tryptophan. Patients present in the first age of life with an irreversible motor disorder, and neuroradiological imaging
Burlina A. B., Cazzorla C., D'Errico I., Gragnaniello V., Gueraldi D., Loro C., Porcu E., Puma A., Salviati L.   +8 more
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Enlargement of the Optic Chiasm: A Novel Imaging Finding in Glutaric Aciduria Type 1. [PDF]

AJNR Am J Neuroradiol, 2021
Ntorkou AA, Daire J, Renaldo F, Doummar D, Alison M, Schiff M, Elmaleh-Bergès M.   +6 more
europepmc   +1 more source

Systemic delivery of AAV-GCDH ameliorates HLD-induced phenotype in a glutaric aciduria type I mouse model

Molecular Therapy: Methods & Clinical Development
Glutaric aciduria type 1 (GA1) is a rare inherited metabolic disorder caused by a deficiency of glutaryl-coenzyme A dehydrogenase (GCDH), with accumulation of neurotoxic metabolites, resulting in a complex movement disorder, irreversible brain damage ...
Anna Mateu-Bosch, Eulàlia Segur-Bailach, Emma Muñoz-Moreno, María José Barallobre, Maria Lourdes Arbonés, Sabrina Gea-Sorlí, Frederic Tort, Antonia Ribes, Judit García-Villoria, Cristina Fillat   +9 more
doaj   +1 more source