Navegar por autor "Fernández Marmiesse, Ana"

A De novo mutation in DNM1L associated with dopaminergic impairment showing infantile parkinsonism and fatal outcome

2015- Fernández Marmiesse, Ana

A glimpse into past, present, and future DNA sequencing

2013- Couce Pico, María Luz; Castiñeiras Ramos, Daisy E; Cocho de Juan, José Ángel; Fraga Bermúdez, José María; Morey Villar, Marcos; [et al.]

A glimpse into past, present, and future DNA sequencing (vol 110, pg 3, 2013)

2015- Couce Pico, María Luz; Castiñeiras Ramos, Daisy E; Cocho de Juan, José Ángel; Fraga Bermúdez, José María; Morey Villar, Marcos; [et al.]

A novel form of CAP myopathy in absence of heart disease associated with recessive TTN gene mutations

2015- Couce Pico, María Luz; Fernández Marmiesse, Ana

An unusual neurodegeneration in late infantile neuronal ceroid lipofuscinosis

2015- Fernández Marmiesse, Ana

Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening

2013- Couce Pico, María Luz; Castiñeiras Ramos, Daisy E; Bóveda Fontán, María Dolores; Fraga Bermúdez, José María; Fernández Marmiesse, Ana [et al.]

Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening (vol 110, pg 218, 2013)

2015- Couce Pico, María Luz; Castiñeiras Ramos, Daisy E; Bóveda Fontán, María Dolores; Fraga Bermúdez, José María; Fernández Marmiesse, Ana [et al.]

Corrigendum: Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations

2015- Fernández Marmiesse, Ana

Evolution of maple syrup urine disease in patients diagnosed by newborn screening versus late diagnosis

2015- Couce Pico, María Luz; Fernández Marmiesse, Ana

Heterozygote mutation in POLR3A and AIMP1 genes in a patient with hypomyelinating leukodystrophy

2014- Fernández Marmiesse, Ana

Heterozygote mutation in POLR3A and AIMP1 genes in patient with hypomyelinating leukodystrophy

2014- Fernández Marmiesse, Ana

Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations

2015- Fernández Marmiesse, Ana

Micronutrient in hyperphenylalaninemia

2015- Leis Trabazo, María Rosaura; Couce Pico, María Luz; Fernández Marmiesse, Ana; Crujeiras Martínez, Vanesa

Molecular Characterization of New FBXL4 Mutations in Patients With mtDNA Depletion Syndrome

2019- Emperador, S.; Garrido-Pérez, N.; Amezcua-Gil, J.; Gaudó, P.; Andrés-Sanz, J. A.; [et al.]

Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain

2013- Couce Pico, María Luz; Bóveda Fontán, María Dolores; Fraga Bermúdez, José María; Mirás Veiga, Alicia; Fernández Marmiesse, Ana [et al.]

Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients

2019- Fernández Marmiesse, Ana; Roca Otero, Iria; Díaz-Flores, F.; Cantarín, V.; Pérez-Poyato, M. S.; [et al.]

Septo-optic dysplasia caused by a novel FLNA splice site mutation: a case report

2019- Fernández Marmiesse, Ana; Pérez-Poyato, M. S.; Fontalba, A.; Marco de Lucas, E.; Martínez, M. T.; [et al.]

The early detection of Salla disease through second-tier tests in newborn screening: how to face incidental findings

2014- Couce Pico, María Luz; Castiñeiras Ramos, Daisy E; Bóveda Fontán, María Dolores; Fraga Bermúdez, José María; Fernández Marmiesse, Ana [et al.]

The study of the crosstalk between peroxisomes and other cell organelles is an efficient tool for the diagnosis of peroxisomal disorders with atypical biochemical phenotype

2015- Fernández Marmiesse, Ana

Vitamin and mineral status in patients with hyperphenylalaninemia

2015- Leis Trabazo, María Rosaura; Couce Pico, María Luz; Fernández Marmiesse, Ana; Crujeiras Martínez, Vanesa

Repositorio digital RUNA

Navegar por autor "Fernández Marmiesse, Ana"

A De novo mutation in DNM1L associated with dopaminergic impairment showing infantile parkinsonism and fatal outcome ﻿

A glimpse into past, present, and future DNA sequencing ﻿

A glimpse into past, present, and future DNA sequencing (vol 110, pg 3, 2013) ﻿

A novel form of CAP myopathy in absence of heart disease associated with recessive TTN gene mutations ﻿

An unusual neurodegeneration in late infantile neuronal ceroid lipofuscinosis ﻿

Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening ﻿

Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening (vol 110, pg 218, 2013) ﻿

Corrigendum: Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations ﻿

Evolution of maple syrup urine disease in patients diagnosed by newborn screening versus late diagnosis ﻿

Heterozygote mutation in POLR3A and AIMP1 genes in a patient with hypomyelinating leukodystrophy ﻿

Heterozygote mutation in POLR3A and AIMP1 genes in patient with hypomyelinating leukodystrophy ﻿

Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations ﻿

Micronutrient in hyperphenylalaninemia ﻿

Molecular Characterization of New FBXL4 Mutations in Patients With mtDNA Depletion Syndrome ﻿

Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain ﻿

Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients ﻿

Septo-optic dysplasia caused by a novel FLNA splice site mutation: a case report ﻿

The early detection of Salla disease through second-tier tests in newborn screening: how to face incidental findings ﻿

The study of the crosstalk between peroxisomes and other cell organelles is an efficient tool for the diagnosis of peroxisomal disorders with atypical biochemical phenotype ﻿

Vitamin and mineral status in patients with hyperphenylalaninemia ﻿

A De novo mutation in DNM1L associated with dopaminergic impairment showing infantile parkinsonism and fatal outcome

A glimpse into past, present, and future DNA sequencing

A glimpse into past, present, and future DNA sequencing (vol 110, pg 3, 2013)

A novel form of CAP myopathy in absence of heart disease associated with recessive TTN gene mutations

An unusual neurodegeneration in late infantile neuronal ceroid lipofuscinosis

Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening

Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening (vol 110, pg 218, 2013)

Corrigendum: Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations

Evolution of maple syrup urine disease in patients diagnosed by newborn screening versus late diagnosis

Heterozygote mutation in POLR3A and AIMP1 genes in a patient with hypomyelinating leukodystrophy

Heterozygote mutation in POLR3A and AIMP1 genes in patient with hypomyelinating leukodystrophy

Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations

Micronutrient in hyperphenylalaninemia

Molecular Characterization of New FBXL4 Mutations in Patients With mtDNA Depletion Syndrome

Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain

Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients

Septo-optic dysplasia caused by a novel FLNA splice site mutation: a case report

The early detection of Salla disease through second-tier tests in newborn screening: how to face incidental findings

The study of the crosstalk between peroxisomes and other cell organelles is an efficient tool for the diagnosis of peroxisomal disorders with atypical biochemical phenotype

Vitamin and mineral status in patients with hyperphenylalaninemia