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Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): Expression analysis of PMM2-CDG mutations

Journal of inherited metabolic disease, 2011-08, Vol.34 (4), p.929-939

2011

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Long‐term follow‐up with filter paper samples in patients with propionic acidemia

JIMD reports, 2021-01, Vol.57 (1), p.44-51

2021

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Generation and characterization of a human iPSC line from a patient with propionic acidemia due to defects in the PCCA gene

Stem cell research, 2017-08, Vol.23 (C), p.173-177

2017

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Erratum to “Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: Difficulties in the diagnosis”[Clin. Biochem. 42 (2009) 27–33]

Clinical biochemistry, 2016-01, Vol.49 (1-2), p.197-197

2016

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Erratum to: Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)

Journal of inherited metabolic disease, 2017-09, Vol.40 (5), p.753-754

2017

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Defectos congénitos de la glicosilación. Diagnóstico y tratamiento

Revista de neurologiá, 2006, Vol.43 (S01), p.S145

2006

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El laboratorio en el diagnóstico de las enfermedades metabólicas hereditarias. Impacto de las nuevas tecnologías

Revista del laboratorio clínico, 2015-04, Vol.8 (2), p.67-81

2015

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Pharmacological Chaperoning: A Potential Treatment for PMM2-CDG: HUMAN MUTATION

Human mutation, 2017-02, Vol.38 (2), p.160-168

2017

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Corrigendum to “Generation and characterization of a human iPSC line (UAMi004-A) from a patient with propionic acidemia due to defects in the PCCB gene” [Stem Cell Research, Volume 38, July 2019, 101469]

Stem cell research, 2019-08, Vol.39, p.101513-101513, Article 101513

2019

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Correction: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT

Genetics in medicine, 2018-09, Vol.20 (9), p.1098-1098

2018

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Identification of novel mutations in the PCCB gene in European propionic acidemia patients

Human mutation, 1999, Vol.14 (1), p.89-90

1999

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High prevalence of CBS p.T191M mutation in homocystinuric patients from Colombia

Human mutation, 2006-03, Vol.27 (3), p.296-296

2006

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Hallazgos clínicos y genéticos en pacientes con deficiencia de biotinidasa detectados en el cribado neonatal o selectivo de sordera o de enfermedades metabólicas hereditarias

Medicina clínica, 2011-10, Vol.137 (11), p.500-503

2011

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Defecto congénito de glucosilación tipo Ib. Experiencia en el tratamiento con manosa

Anales de pediatría (Barcelona, Spain : 2003), 2008-10, Vol.69 (4), p.358-365

2008

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Skipping of exon 2 and exons 2 plus 3 of HMG-CoA lyase (HL) gene produces the loss of beta sheets 1 and 2 in the recently proposed (beta-alpha) 8 TIM Barrel model of HL

Biophysical chemistry, 2005-04, Vol.115 (2), p.241-245

2005

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Isolated and Combined Remethylation Disorders: Biochemical and Genetic Diagnosis and Pathophysiology

Journal of inborn errors of metabolism and screening, 2017, Vol.5, p.232640981668573

2017

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Isolated and Combined Remethylation Disorders

Journal of inborn errors of metabolism and screening, 2017-01, Vol.5

2017

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Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III

Human genetics, 2000-06, Vol.106 (6), p.654-662

2000

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High prevalence ofCBS p.T191M mutation in homocystinuric patients from Colombia

Human mutation, 2006-03, Vol.27 (3), p.296-296

2006

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Beneficial Effect of N-Carbamylglutamate in a Neonatal Form of Multiple Acyl-CoA Dehydrogenase Deficiency

Case reports in pediatrics, 2020, Vol.2020, p.1370293-1370293

2020

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DPAGT1-CDG: Report of a patient with fetal hypokinesia phenotype

American Journal of Medical Genetics Part A, 2012, Vol.158A (8), p.2027-2030

2012

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Functional analysis of a novel mutation in the PCCA gene identified in a late-infantile onset propionic acidemia patient

Clinica chimica acta; international journal of clinical chemistry, 2010, Vol.411 (17-18), p.1388-1389

2010

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Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): Expression analysis of PMM2-CDG mutations : CDG: an uptdate

Journal of inherited metabolic disease, 2011, Vol.34 (4), p.929-939

2011

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Separation and identification of plasma short-chain acylcamitine isomers by HPLC/MS/MS for the differential diagnosis of fatty acid oxidation defects and organic acidemias

Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2007, Vol.860 (1), p.121-126

2007

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Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): Expression analysis of PMM2-CDG mutations

Long‐term follow‐up with filter paper samples in patients with propionic acidemia

Generation and characterization of a human iPSC line from a patient with propionic acidemia due to defects in the PCCA gene

Erratum to “Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: Difficulties in the diagnosis”[Clin. Biochem. 42 (2009) 27–33]

Erratum to: Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)

Defectos congénitos de la glicosilación. Diagnóstico y tratamiento

El laboratorio en el diagnóstico de las enfermedades metabólicas hereditarias. Impacto de las nuevas tecnologías

Pharmacological Chaperoning: A Potential Treatment for PMM2-CDG: HUMAN MUTATION

Corrigendum to “Generation and characterization of a human iPSC line (UAMi004-A) from a patient with propionic acidemia due to defects in the PCCB gene” [Stem Cell Research, Volume 38, July 2019, 101469]

Correction: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT

Identification of novel mutations in the PCCB gene in European propionic acidemia patients

High prevalence of CBS p.T191M mutation in homocystinuric patients from Colombia

Hallazgos clínicos y genéticos en pacientes con deficiencia de biotinidasa detectados en el cribado neonatal o selectivo de sordera o de enfermedades metabólicas hereditarias

Defecto congénito de glucosilación tipo Ib. Experiencia en el tratamiento con manosa

Skipping of exon 2 and exons 2 plus 3 of HMG-CoA lyase (HL) gene produces the loss of beta sheets 1 and 2 in the recently proposed (beta-alpha) 8 TIM Barrel model of HL

Isolated and Combined Remethylation Disorders: Biochemical and Genetic Diagnosis and Pathophysiology

Isolated and Combined Remethylation Disorders

Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III

High prevalence ofCBS p.T191M mutation in homocystinuric patients from Colombia

Beneficial Effect of N-Carbamylglutamate in a Neonatal Form of Multiple Acyl-CoA Dehydrogenase Deficiency

DPAGT1-CDG: Report of a patient with fetal hypokinesia phenotype

Functional analysis of a novel mutation in the PCCA gene identified in a late-infantile onset propionic acidemia patient

Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): Expression analysis of PMM2-CDG mutations : CDG: an uptdate

Separation and identification of plasma short-chain acylcamitine isomers by HPLC/MS/MS for the differential diagnosis of fatty acid oxidation defects and organic acidemias

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