Search Results - "Fernández‐Lainez, C."
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β(2→6)-Type fructans attenuate proinflammatory responses in a structure dependent fashion via Toll-like receptors
Published in Carbohydrate polymers (01-02-2022)“…Graminan-type fructans (GTFs) have demonstrated immune benefits. However, mechanisms underlying these benefits are unknown. We studied GTFs interaction with…”
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2
Genotypic spectrum underlying tetrahydrobiopterin metabolism defects: Experience in a single Mexican reference center
Published in Frontiers in genetics (12-10-2022)“…Background: Pterin profiles or molecular analyses of hyperphenylalaninemia (HPA) caused by phenylalanine hydroxylase (PAH) deficiency or tetrahydrobiopterin…”
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Phenylalanine hydroxylase deficiency in Mexico: genotype-phenotype correlations, BH4 responsiveness and evidence of a founder effect
Published in Clinical genetics (01-07-2015)“…The mutational spectrum of the phenylalanine hydroxylase gene (PAH) in Mexico is unknown, although it has been suggested that PKU variants could have a…”
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4
Tandem mass spectrometry newborn screening for inborn errors of intermediary metabolism: abnormal profile interpretation
Published in Current medicinal chemistry (01-09-2012)“…Expanded newborn screening for inherited metabolic disorders using tandem mass spectrometry was introduced in 1990's and is widely used around the world. In…”
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5
Causes of delay in referral of patients with phenylketonuria to a specialized reference centre in Mexico
Published in Journal of medical screening (01-09-2011)“…To expose causes leading to the delayed arrival of phenylketonuria (PKU) patients at a governmental reference centre (RC), and to describe their clinical…”
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6
Characterization of inborn errors of intermediary metabolism in mexican patients
Published in Anales de pediatría (Barcelona, Spain : 2003) (01-05-2014)“…Inborn errors of intermediary metabolism (IEiM) are a group of heterogeneous genetic diseases that are diagnostically challenging and cause significant…”
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7
P.11 Comparison of nutritional status and metabolic control in PKU infants with breastmilk vs infant formula in Mexico
Published in Molecular genetics and metabolism (01-04-2024)Get full text
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8
Caracterización de errores innatos del metabolismo intermediario en pacientes mexicanos
Published in Anales de pediatría (Barcelona, Spain : 2003) (01-05-2014)“…Resumen Introducción Los errores innatos del metabolismo intermediario (EIMi) son enfermedades genéticas heterogéneas que causan importante morbimortalidad y…”
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Phenylalanine hydroxylase deficiency in Mexico: genotype–phenotype correlations, BH 4 responsiveness and evidence of a founder effect
Published in Clinical genetics (01-07-2015)“…The mutational spectrum of the phenylalanine hydroxylase gene ( PAH ) in Mexico is unknown, although it has been suggested that PKU variants could have a…”
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10
Crisis neuropática por suspensión de nitisinona en una paciente con tirosinemia: informe de un caso
Published in Acta pediátrica de México (01-10-2017)“…Se presenta el caso de una paciente con tirosinemia hepatorrenal (TYR- 1) que, debido a la interrupción por cuatro semanas de tratamiento con nitisinona, tuvo…”
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Characterization of proteolytic activities of Giardia lamblia with the ability to cleave His-tagged N-terminal sequences
Published in Molecular and biochemical parasitology (01-03-2019)“…•The study of proteolytic activities in Giardia is important to understand the factors that control the host-parasite interaction.•We developed a…”
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