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Àngels García-Cazorla (ORCID: 0000-0001-9853-688X)
Àngels García-Cazorla (ORCID: 0000-0001-9853-688X)
Neuropediatra, Investigadora en Neurociencias Pediátricas, Hospital Sant Joan de Déu, Barcelona
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Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature
GI Rice, PR Kasher, GMA Forte, NM Mannion, SM Greenwood, ...
Nature genetics 44 (11), 1243-1248, 2012
8432012
Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response
GI Rice, J Bond, A Asipu, RL Brunette, IW Manfield, IM Carr, JC Fuller, ...
Nature genetics 41 (7), 829-832, 2009
7822009
Clinical and molecular phenotype of Aicardi-Goutieres syndrome
G Rice, T Patrick, R Parmar, CF Taylor, A Aeby, J Aicardi, R Artuch, ...
The American Journal of Human Genetics 81 (4), 713-725, 2007
4652007
Inborn metabolic diseases
JM Saudubray, G Berghe, JH Walter
Springer, 2012
4212012
Diagnosis and management of glutaric aciduria type I–revised recommendations
S Kölker, E Christensen, JV Leonard, CR Greenberg, A Boneh, ...
Journal of inherited metabolic disease 34, 677-694, 2011
3792011
A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins
A Navarro-Sastre, F Tort, O Stehling, MA Uzarska, JA Arranz, M Del Toro, ...
The American Journal of Human Genetics 89 (5), 656-667, 2011
2942011
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
S Kölker, AG Cazorla, V Valayannopoulos, AM Lund, AB Burlina, ...
Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2015
2582015
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency
M Huemer, D Diodato, B Schwahn, M Schiff, A Bandeira, JF Benoist, ...
Journal of inherited metabolic disease 40, 21-48, 2017
2532017
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
S Kölker, V Valayannopoulos, AB Burlina, J Sykut-Cegielska, FA Wijburg, ...
Journal of inherited metabolic disease 38, 1059-1074, 2015
2452015
Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency
T Wassenberg, M Molero-Luis, K Jeltsch, GF Hoffmann, B Assmann, ...
Orphanet journal of rare diseases 12, 1-21, 2017
2132017
Inborn errors of metabolism overview: pathophysiology, manifestations, evaluation, and management
JM Saudubray, À Garcia-Cazorla
Pediatric Clinics 65 (2), 179-208, 2018
1892018
GDF-15 is elevated in children with mitochondrial diseases and is induced by mitochondrial dysfunction
R Montero, D Yubero, J Villarroya, D Henares, C Jou, MA Rodríguez, ...
PloS one 11 (2), e0148709, 2016
1692016
Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice
LC Lopez, HO Akman, Á García-Cazorla, B Dorado, R Martí, I Nishino, ...
Human molecular genetics 18 (4), 714-722, 2009
1622009
An international classification of inherited metabolic disorders (ICIMD)
CR Ferreira, S Rahman, M Keller, J Zschocke, ICIMD Advisory Group, ...
Journal of inherited metabolic disease 44 (1), 164-177, 2021
1612021
Clinical and molecular genetic features of ARC syndrome
P Gissen, L Tee, CA Johnson, E Genin, A Caliebe, D Chitayat, ...
Human genetics 120, 396-409, 2006
1442006
Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and Genotype–Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome
MT Handley, DJ Morris‐Rosendahl, S Brown, F Macdonald, C Hardy, ...
Human mutation 34 (5), 686-696, 2013
1282013
Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance
HO Akman, B Dorado, LC Lopez, Á García-Cazorla, MR Vila, LM Tanabe, ...
Human molecular genetics 17 (16), 2433-2440, 2008
1272008
Development of the serotonergic cells in murine raphe nuclei and their relations with rhombomeric domains
A Alonso, P Merchán, JE Sandoval, L Sánchez-Arrones, A Garcia-Cazorla, ...
Brain structure and function 218, 1229-1277, 2013
1192013
Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease: Volume 1
RN Rosenberg, JM Pascual
Academic press, 2020
1152020
HPLC with electrochemical and fluorescence detection procedures for the diagnosis of inborn errors of biogenic amines and pterins
A Ormazabal, A García-Cazorla, Y Fernández, E Fernández-Alvarez, ...
Journal of neuroscience methods 142 (1), 153-158, 2005
1122005
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