about
Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes.Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathyA novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like diseaseNonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the diseaseAssessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.A selective screening program for the early detection of mucopolysaccharidosis: Results of the FIND project - a 2-year follow-up study.A glimpse into past, present, and future DNA sequencing.The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America.Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases.Newborn Screening for Homocystinuria Revealed a High Frequency of MAT I/III Deficiency in Iberian PeninsulaEffects of different arachidonic acid supplementation on psychomotor development in very preterm infants; a randomized controlled trial.Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational studyRecombinant Bile Salt-Stimulated Lipase in Preterm Infant Feeding: A Randomized Phase 3 Study.Clinical manifestations in female carriers of mucopolysaccharidosis type II: a Spanish cross-sectional studyNewborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency.Lipid profile status and other related factors in patients with Hyperphenylalaninaemia.Umbilical cord and visceral hemangiomas diagnosed in the neonatal period: A case report and a review of the literature.Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.Molecular mechanisms of appetite and obesity: a role for brain AMPK.Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia.The early detection of Salla disease through second-tier tests in newborn screening: how to face incidental findings.Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations.Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria.Micronutrient in hyperphenylalaninemiaCost-Effectiveness Analysis of a National Newborn Screening Program for Biotinidase Deficiency.Influence of phenylketonuria's diet on dimethylated arginines and methylation cycle.Newborn screening for Fabry disease in the north-west of Spain.Evolution of maple syrup urine disease in patients diagnosed by newborn screening versus late diagnosis.Relevance of expanded neonatal screening of medium-chain acyl co-a dehydrogenase deficiency: outcome of a decade in galicia (Spain).The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.Long-term pharmacological management of phenylketonuria, including patients below the age of 4 years.Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening.Tetrahydrobiopterin therapy vs phenylalanine-restricted diet: impact on growth in PKU.Progressive heterotopic ossification: the arduousness of an accurate diagnosis.New insights in growth of phenylketonuric patients.Corrigendum to "Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening" [Mol. Genet. Metab. 110 (2013) 218-221].Hypermethioninaemia due to methionine adenosyltransferase I/III (MAT I/III) deficiency: diagnosis in an expanded neonatal screening programme.Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain.Oral Administration to Nursing Women of Lactobacillus fermentum CECT5716 Prevents Lactational Mastitis Development: A Randomized Controlled Trial.
P50
Q26796411-F3457F07-8F3E-40C2-9ACF-33A00F7A50BAQ28118211-3D099A41-91EC-4F7D-915E-8A9B7B88BE5DQ28238461-AB2AE680-75EA-4029-A8BF-7B30BAD81F25Q29147446-F02CA5DD-F98B-497E-9A3F-EB0CA2BAB588Q33624239-998B0EC9-588D-4F54-AE6B-78F69AE729A1Q33672920-ECAA0934-E344-4B34-A951-517D00629410Q34349116-35BAC0C7-5DEB-44A0-A6DA-2A49FA650910Q34564879-99B22F40-976C-4170-896D-3193CB941843Q34645366-5E72BAD2-85D7-4EA6-8102-534BDED494DAQ35220692-FE44A242-29B5-4F16-8F9F-43353B1F4646Q36110800-C036DD6A-BD59-4BB8-85EE-6613592B67BEQ36748949-0EE84C32-3C93-46F1-8AEC-E5409E99D326Q36951381-9CEE2199-3AAA-4797-A5AE-8A618F9E8C77Q36972295-780A7E67-0110-4258-B0B3-4AB6F4697C80Q37033554-6B714CD1-2F46-4FBC-8609-4BFE282645ADQ37243758-479B2ECD-0E0E-4CDB-B5F0-28D582921EB9Q37365016-D702C307-C06B-4358-B82C-55092CE49558Q37547491-25AB3565-4719-467D-8C65-6D53672C9973Q38655437-A3F947EF-4CEE-48DE-85EB-CF4E75FA4745Q38935772-3DE86500-FF36-4B2E-920F-33AA907E0109Q39141195-861AE9CD-F3E6-443A-8530-66A440A47988Q39164908-0C48208F-7085-4F03-A190-7176250685CEQ39480524-457C7EC5-F7A1-48D2-8169-3B9C083310F7Q39816746-1308A9E5-8392-44C9-A322-5D3D014DCEA8Q40591285-28DB88CE-8B68-4638-80B5-7A8F7E691C68Q40743215-B2FAC845-DD52-4E14-B66A-1B1036E709EDQ40963267-7A337900-2559-4F87-9DC0-52594721CF25Q41020446-27605460-B103-4BA1-B59F-F034DBED74A7Q41524462-49CAD635-B838-43C5-A3CE-21CEFA9E5DD4Q41869905-2D805408-0ACE-402E-9D56-B8F23D283A89Q41928288-103B047C-6C73-46C7-A356-5569C5246886Q42367760-E5F35CDF-FA37-4653-A5AF-F574E9D48A49Q43552201-A0D2992E-5250-4088-9CC9-72588B8F3C25Q44148908-CD3B0813-5418-4269-A394-54D165CB3571Q45018101-E115FAA4-456D-42C4-B5BB-0D58BF237FC4Q45291081-C824A661-B9CF-416F-B8A3-1EBB2D65376EQ45875012-7AF695A9-246D-4DCC-9FA8-505564EC5314Q46578215-4851F547-2965-4362-B1D2-85E096987942Q46868957-98A97F21-2951-446B-A47B-8C10DA9270CCQ46893340-9268DF2E-1DBA-4EF1-92E3-AB60AD8BD1A7
P50
description
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
María L Couce
@ast
María L Couce
@en
María L Couce
@es
María L Couce
@nl
type
label
María L Couce
@ast
María L Couce
@en
María L Couce
@es
María L Couce
@nl
altLabel
Maria Luz Couce
@en
prefLabel
María L Couce
@ast
María L Couce
@en
María L Couce
@es
María L Couce
@nl
P106
P1153
7003683107
P31
P496
0000-0003-4861-9905