Results 111 to 120 of about 3,887 (227)

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
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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
core  

Lactante de 9 meses con convulsiones [PDF]

, 2008
- Datos Clínicos. - Antecedentes personales. - Enfermedad actual.
Fabi, Mariana, Zubiri, Cecilia
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Parental views on informed consent for expanded newborn screening [PDF]

, 2013
Background  An increasing array of rare inherited conditions can be detected as part of the universal newborn screening programme. The introduction and evaluation of these service developments require consideration of the ethical issues involved and ...
Arnold, Autti-Ramo, Bailey, Bijarnia, Braun, Chadwick, Chrastina, Cooke, Davey, Davis, den Boer, Detmar, Detmar, El-Wakeel, Hargreaves, Helgesson, Helgesson, Junghans, Kemper, Levy, Liebl, O’Neill, Pollitt, Ponder, Rogers, Stewart, Tarini, Vockley, Wilson, Østerlie   +29 more
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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

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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A knock-in rat model unravels acute and chronic renal toxicity in glutaric aciduria type I.

Molecular Genetics and Metabolism, 2021
M. G. Melo, Andrea Fontana, D. Viertl, G. Allenbach, John O. Prior, S. Rotman, R. Feichtinger, J. Mayr, M. Costanzo, M. Caterino, M. Ruoppolo, O. Braissant, F. Barbey, D. Ballhausen   +13 more
semanticscholar   +1 more source

The first knock-in rat model for glutaric aciduria type I allows further insights into pathophysiology in brain and periphery.

Molecular Genetics and Metabolism, 2021
Mary Gonzalez Melo, N. Remacle, Hong-Phuc Cudré-Cung, Clothilde Roux, M. Poms, C. Cudalbu, Madalena Barroso, S. Gersting, R. Feichtinger, J. Mayr, M. Costanzo, M. Caterino, M. Ruoppolo, V. Rüfenacht, J. Häberle, O. Braissant, D. Ballhausen   +16 more
semanticscholar   +1 more source

Thymine Hyperexcretion in a Patient with Abnormal Newborn Screen for Glutaric Aciduria Type I.

Clinical Chemistry, 2023
Parith Wongkittichote, Andrew C. Edmondson, Xinying Hong   +2 more
semanticscholar   +1 more source