TY  - JOUR
AU  - Brasil, Sandra
AU  - Leal, Fátima
AU  - Vega, Ana
AU  - Navarrete, Rosa
AU  - Ecay, María Jesús
AU  - Desviat, Lourdes R
AU  - Riera, Casandra
AU  - Padilla, Natàlia
AU  - de la Cruz, Xavier
AU  - Couce, Mari Luz
AU  - Martin-Hernández, Elena
AU  - Morais, Ana
AU  - Pedrón, Consuelo
AU  - Peña-Quintana, Luis
AU  - Rigoldi, Miriam
AU  - Specola, Norma
AU  - de Almeida, Isabel Tavares
AU  - Vives, Inmaculada
AU  - Yahyaoui, Raquel
AU  - Rodríguez-Pombo, Pilar
AU  - Ugarte, Magdalena
AU  - Pérez-Cerda, Celia
AU  - Merinero, Begoña
AU  - Pérez, Belén
PY  - 2018
DO  - 10.1186/s13023-018-0862-y
UR  - http://hdl.handle.net/10668/12749
T2  - Orphanet journal of rare diseases
AB  - Cellular cobalamin defects are a locus and allelic heterogeneous disorder. The gold standard for coming to genetic diagnoses of cobalamin defects has for some time been gene-by-gene Sanger sequencing of individual DNA fragments. Enzymatic and cellular...
LA  - en
KW  - Cobalamin disorders
KW  - Homocystinuria
KW  - Massive parallel sequencing
KW  - Methylmalonic aciduria
KW  - Amino Acid Metabolism, Inborn Errors
KW  - Coenzyme A Ligases
KW  - Female
KW  - High-Throughput Nucleotide Sequencing
KW  - Homocystinuria
KW  - Humans
KW  - Male
KW  - Mutation
KW  - Succinate-CoA Ligases
KW  - Vitamin B 12
KW  - Vitamin B 12 Deficiency
TI  - Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants.
TY  - research article
VL  - 13
ER  -