allysine and Metal Metabolism, Inborn Error

allysine has been researched along with Metal Metabolism, Inborn Error in 3 studies

Research

Studies (3)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's3 (100.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Ferrer-López, I; Merinero, B; Pérez-Cerdá, C; Ruiz-Sala, P; Ugarte, M1
Ceyhan, S; Clayton, PT; Footitt, EJ; Jakobs, C; Mills, PB; Struys, EA; Waters, PJ1
Al Shahwan, S; Bakkali, A; Nota, B; Salomons, GS; Struys, EA; Tabarki, B1

Other Studies

3 other study(ies) available for allysine and Metal Metabolism, Inborn Error

ArticleYear
Determination of urinary alpha-aminoadipic semialdehyde by LC-MS/MS in patients with congenital metabolic diseases.
    Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2014, Jan-01, Volume: 944

    Topics: 2-Aminoadipic Acid; Adolescent; Child, Preschool; Chromatography, Liquid; Epilepsy; Humans; Infant; Infant, Newborn; Linear Models; Metal Metabolism, Inborn Errors; Reproducibility of Results; Sensitivity and Specificity; Tandem Mass Spectrometry

2014
Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency.
    Journal of inherited metabolic disease, 2012, Volume: 35, Issue:6

    Topics: 2-Aminoadipic Acid; Adolescent; Amino Acid Metabolism, Inborn Errors; Child; Coenzymes; Cysteine; Humans; Infant, Newborn; L-Aminoadipate-Semialdehyde Dehydrogenase; Lysine; Metabolic Networks and Pathways; Metal Metabolism, Inborn Errors; Metalloproteins; Models, Biological; Molybdenum Cofactors; Molybdoferredoxin; Oxidoreductases Acting on Sulfur Group Donors; Pteridines; Sulfite Oxidase; Sulfites

2012
Pyridoxine-dependent epilepsy with elevated urinary α-amino adipic semialdehyde in molybdenum cofactor deficiency.
    Pediatrics, 2012, Volume: 130, Issue:6

    Topics: 2-Aminoadipic Acid; Aldehyde Dehydrogenase; Brain; Child, Preschool; Consanguinity; Developmental Disabilities; Diagnosis, Differential; Diffusion Magnetic Resonance Imaging; DNA Mutational Analysis; Electroencephalography; Epilepsy; Exons; Female; Genetic Carrier Screening; Homozygote; Humans; Infant; Infant, Newborn; Leucovorin; Male; Metal Metabolism, Inborn Errors; Molybdoferredoxin; Neurologic Examination; Pyridoxal Phosphate; Pyridoxine; Sequence Analysis, DNA; Sulfurtransferases

2012