List of works - Marcela Vela-Amieva

Analysis of the CTNS gene in nephropathic cystinosis Mexican patients: report of four novel mutations and identification of a false positive 57-kb deletion genotype with LDM-2/exon 4 multiplex PCR assay.

scientific article

Brief Report: Delayed Diagnosis of Treatable Inborn Errors of Metabolism in Children with Autism and Other Neurodevelopmental Disorders

scientific article published on 02 September 2020

Causes of delay in referral of patients with phenylketonuria to a specialized reference centre in Mexico.

scientific article published in January 2011

Clinical and biochemical characteristics of patients with urea cycle disorders in a developing country.

scientific article published on 16 December 2009

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project

scientific article published in March 2011

Congenital toxoplasmosis: specific IgG subclasses in mother/newborn pairs

scientific article published on 01 May 2008

Correspondence on ''experience with hyperphenylalaninemia in a developing country: unusual clinical manifestations and a novel gene mutation''

scientific article published on 01 February 2011

Diagnosis of inborn errors of metabolism.

scientific article published in March 2000

Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes

scientific article published on 27 March 2012

Erratum to: Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes

scholarly article published in Journal of Inherited Metabolic Disease

Genetic spectrum and clinical early natural history of glucose-6-phosphate dehydrogenase deficiency in Mexican children detected through newborn screening

scientific article published on 26 February 2021

Higher incidence of thyroid agenesis in Mexican newborns with congenital hypothyroidism associated with birth defects

scientific article published on 03 August 2011

Immunoglobulin Concentrations in Plasma and Saliva During the Neonatal Period.

scientific article

In silico prediction of the pathogenic effect of a novel variant of BCKDHA leading to classical maple syrup urine disease identified using clinical exome sequencing

scientific article published on 16 April 2018

Kernicterus in a boy with ornithine transcarbamylase deficiency: A case report.

scientific article

Low allelic heterogeneity in a sample of Mexican patients with classical galactosaemia.

scientific article published on 29 October 2008

Molecular analysis of the PAX8 gene in a sample of Mexican patients with primary congenital hypothyroidism: identification of the recurrent p.Arg31His mutation

scientific article published on 01 January 2012

Mutational spectrum of Mexican patients with tyrosinemia type 1: In silico modeling and predicted pathogenic effect of a novel missense FAH variant

scientific article published on 30 September 2019

Phenylalanine hydroxylase deficiency in Mexico: genotype-phenotype correlations, BH4 responsiveness and evidence of a founder effect

scientific article published on 26 July 2014

Tandem Mass Spectrometry Newborn Screening for Inborn Errors of Intermediary Metabolism: Abnormal Profile Interpretation ⬇️

scientific article published on January 1, 2012

Thiopurine S-methyltransferase (TPMT) genetic polymorphisms in Mexican newborns.

scientific article published in December 2009

[Characterization of inborn errors of intermediary metabolism in mexican patients].

scientific article

List of works by Marcela Vela-Amieva

Analysis of the CTNS gene in nephropathic cystinosis Mexican patients: report of four novel mutations and identification of a false positive 57-kb deletion genotype with LDM-2/exon 4 multiplex PCR assay.

Brief Report: Delayed Diagnosis of Treatable Inborn Errors of Metabolism in Children with Autism and Other Neurodevelopmental Disorders

Causes of delay in referral of patients with phenylketonuria to a specialized reference centre in Mexico.

Clinical and biochemical characteristics of patients with urea cycle disorders in a developing country.

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project

Congenital toxoplasmosis: specific IgG subclasses in mother/newborn pairs

Correspondence on ''experience with hyperphenylalaninemia in a developing country: unusual clinical manifestations and a novel gene mutation''

Diagnosis of inborn errors of metabolism.

Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes

Erratum to: Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes

Genetic spectrum and clinical early natural history of glucose-6-phosphate dehydrogenase deficiency in Mexican children detected through newborn screening

Higher incidence of thyroid agenesis in Mexican newborns with congenital hypothyroidism associated with birth defects

Immunoglobulin Concentrations in Plasma and Saliva During the Neonatal Period.

In silico prediction of the pathogenic effect of a novel variant of BCKDHA leading to classical maple syrup urine disease identified using clinical exome sequencing

Kernicterus in a boy with ornithine transcarbamylase deficiency: A case report.

Low allelic heterogeneity in a sample of Mexican patients with classical galactosaemia.

Molecular analysis of the PAX8 gene in a sample of Mexican patients with primary congenital hypothyroidism: identification of the recurrent p.Arg31His mutation

Mutational spectrum of Mexican patients with tyrosinemia type 1: In silico modeling and predicted pathogenic effect of a novel missense FAH variant

Phenylalanine hydroxylase deficiency in Mexico: genotype-phenotype correlations, BH4 responsiveness and evidence of a founder effect

Tandem Mass Spectrometry Newborn Screening for Inborn Errors of Intermediary Metabolism: Abnormal Profile Interpretation ⬇️

Thiopurine S-methyltransferase (TPMT) genetic polymorphisms in Mexican newborns.

[Characterization of inborn errors of intermediary metabolism in mexican patients].