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1

Inborn Errors of Metabolism Overview

Saudubray, Jean-Marie, Garcia-Cazorla, Àngels

Journal:

Pediatric Clinics of North America

Year:

2018

Language:

english

File:

PDF, 391 KB

english, 2018

2

Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders

Posset, Roland, Garcia-Cazorla, Angeles, Valayannopoulos, Vassili, Leão Teles, Elisa, Dionisi-Vici, Carlo, Brassier, Anaïs, Burlina, Alberto B., Burgard, Peter, Cortès-Saladelafont, Elisenda, Dobbelae

Journal:

Journal of Inherited Metabolic Disease

Year:

2018

File:

PDF, 301 KB

2018

3

Deletion in the tyrosine hydroxylase gene in a patient with a mild phenotype

Aida Ormazabal, Mercedes Serrano, Angels Garcia-Cazorla, Jaume Campistol, Rafael Artuch, Pedro Castro de Castro, Estíbaliz Barredo-Valderrama, Judith Armstrong, Claudio Toma, Bru Cormand

Journal:

Movement Disorders

Year:

2011

Language:

english

File:

PDF, 676 KB

english, 2011

4

Estudio epidemiológico de las enfermedades metabólicas con homocistinuria en España

M.C. García-Jiménez, A. Baldellou, M.T. García-Silva, J. Dalmau-Serra, A. García-Cazorla, L. Gómez-López, C. Pedrón Giner, O. Alonso Luengo, L. Peña Quintana, M. Luz Couce, M. Martínez-Pardo, N. Lambr

Journal:

Anales de Pediatría

Year:

2012

File:

PDF, 357 KB

2012

5

Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome

Quijada-Fraile, Pilar, O’Callaghan, Mar, Martín-Hernández, Elena, Montero, Raquel, Garcia-Cazorla, Àngels, de Aragón, Ana, Muchart, Jordi, Málaga, Ignacio, Pardo, Rafael, García-Gonzalez, Pedro, Jou,

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 1.10 MB

english, 2014

6

MITOCHONDRIAL DISEASES ASSOCIATED WITH CEREBRAL FOLATE DEFICIENCY

Garcia-Cazorla, A., Quadros, E. V., Nascimento, A., Garcia-Silva, M. T., Briones, P., Montoya, J., Ormazabal, A., Artuch, R., Sequeira, J. M., Blau, N., Arenas, J., Pineda, M., Ramaekers, V. T.

Journal:

Year:

2008

Language:

english

File:

PDF, 675 KB

english, 2008

7

Clinical, etiological and therapeutic aspects of cerebral folate deficiency

Molero-Luis, Marta, Serrano, Mercedes, O’Callaghan, Maria M, Sierra, Cristina, Pérez-Dueñas, Belén, García-Cazorla, Angels, Artuch, Rafael

Journal:

Expert Review of Neurotherapeutics

Year:

2015

Language:

english

File:

PDF, 348 KB

english, 2015

8

Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study

Valayannopoulos, Vassili, Baruteau, Julien, Delgado, Maria Bueno, Cano, Aline, Couce, Maria L., Del Toro, Mireia, Donati, Maria Alice, Garcia-Cazorla, Angeles, Gil-Ortega, David, Gomez-de Quero, Pedro

Journal:

Orphanet Journal of Rare Diseases

Year:

2016

Language:

english

File:

PDF, 948 KB

english, 2016

9

Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment

Serrano, Mercedes, de Diego, Víctor, Muchart, Jordi, Cuadras, Daniel, Felipe, Ana, Macaya, Alfons, Velázquez, Ramón, Poo, M. Pilar, Fons, Carmen, O’Callaghan, M. Mar, García-Cazorla, Angels, Boix, Cri

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 800 KB

english, 2015

10

A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis

Ferrer-Cortès, Xènia, Narbona, Juan, Bujan, Núria, Matalonga, Leslie, Del Toro, Mireia, Arranz, José Antonio, Riudor, Encarnació, Garcia-Cazorla, Angels, Jou, Cristina, O'Callaghan, Mar, Pineda, Mercé

Journal:

Year:

2016

Language:

english

File:

PDF, 934 KB

english, 2016

11

Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency

Wassenberg, Tessa, Molero-Luis, Marta, Jeltsch, Kathrin, Hoffmann, Georg F., Assmann, Birgit, Blau, Nenad, Garcia-Cazorla, Angeles, Artuch, Rafael, Pons, Roser, Pearson, Toni S., Leuzzi, Vincenco, Mas

Journal:

Orphanet Journal of Rare Diseases

Year:

2017

Language:

english

File:

PDF, 1.05 MB

english, 2017

12

Effect of carglumic acid with or without ammonia scavengers on hyperammonaemia in acute decompensation episodes of organic acidurias

Chakrapani, Anupam, Valayannopoulos, Vassili, Segarra, Nuria García, Del Toro, Mireia, Donati, Maria Alice, García-Cazorla, Angeles, González, María Julieta, Plisson, Celine, Giordano, Vincenzo

Journal:

Orphanet Journal of Rare Diseases

Year:

2018

Language:

english

File:

PDF, 1023 KB

english, 2018

13

Encephalopathies with intracranial calcification in children: clinical and genetic characterization

Tonduti, Davide, Panteghini, Celeste, Pichiecchio, Anna, Decio, Alice, Carecchio, Miryam, Reale, Chiara, Moroni, Isabella, Nardocci, Nardo, Campistol, Jaume, Garcia-Cazorla, Angela, Perez Duenas, Bele

Journal:

Orphanet Journal of Rare Diseases

Year:

2018

Language:

english

File:

PDF, 5.91 MB

english, 2018

14

Celia’s encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant

Sánchez-Iglesias, Sofía, Crocker, Melissa, O’Callaghan, Mar, Darling, Alejandra, García-Cazorla, Angels, Domingo-Jiménez, Rosario, Castro, Ana, Fernández-Pombo, Antía, Ruibal, Álvaro, Aguiar, Pablo, G

Journal:

Year:

2019

Language:

english

File:

PDF, 1.47 MB

english, 2019

15

Pyruvate carboxylase deficiency: Metabolic characteristics and new neurological aspects

Angels García-Cazorla, Daniel Rabier, Guy Touati, Bernadette Chadefaux-Vekemans, Cécile Marsac, Pascale de Lonlay, Jean-Marie Saudubray

Journal:

Annals of Neurology

Year:

2006

Language:

english

File:

PDF, 122 KB

english, 2006

16

Volatile and sensory characterization of Xarel.lo white wines

Carolina Muñoz-González, M Victoria Moreno-Arribas, Pedro J Martín-Álvarez, Enric Bartra-Sebastian, Ana Puig-Pujol, Joan García-Cazorla, Maria Ángeles Pozo-Bayón

Journal:

Flavour and Fragrance Journal

Year:

2011

Language:

english

File:

PDF, 168 KB

english, 2011

17

Hand tremor and orofacial dyskinesia: Clinical manifestations of glutaric aciduria type I in a young girl

Emilio Fernández-Álvarez, Angeles García-Cazorla, Anna Sans, Cristina Boix, María Antonia Vilaseca, Christianne Busquets, Antonia Ribes

Journal:

Movement Disorders

Year:

2003

Language:

english

File:

PDF, 725 KB

english, 2003

18

Levodopa therapy in a Lesch-Nyhan disease patient: Pathological, biochemical, neuroimaging, and therapeutic remarks

Mercedes Serrano, Belen Pérez-Dueñas, Aida Ormazábal, Rafael Artuch, Jaume Campistol, Rosa J. Torres, Angels García-Cazorla

Journal:

Movement Disorders

Year:

2008

Language:

english

File:

PDF, 749 KB

english, 2008

19

Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation

Roser Pons, Mercedes Serrano, Aida Ormazabal, Claudio Toma, Angels Garcia-Cazorla, Estela Area, Marta Ribasés, Emmanuel Kanavakis, Kaliopi Drakaki, Aristotelis Giannakopoulos, Irene Orfanou, Sotiris Y

Journal:

Movement Disorders

Year:

2010

Language:

english

File:

PDF, 1.17 MB

english, 2010

20

Biochemical diagnosis of dopaminergic disturbances in paediatric patients: Analysis of cerebrospinal fluid homovanillic acid and other biogenic amines

Isaac Marín-Valencia, Mercedes Serrano, Aida Ormazabal, Belén Pérez-Dueñas, Angels García-Cazorla, Jaume Campistol, Rafael Artuch

Journal:

Clinical Biochemistry

Year:

2008

Language:

english

File:

PDF, 388 KB

english, 2008

21

Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: A case report

Raquel Montero, Jose A. Sánchez-Alcázar, Paz Briones, Aleix Navarro-Sastre, Ester Gallardo, Belén Bornstein, Dolores Herrero-Martín, Henry Rivera, Miguel A. Martin, Ramón Marti, Angels García-Cazorla,

Journal:

Clinical Biochemistry

Year:

2009

Language:

english

File:

PDF, 338 KB

english, 2009

22

Folate analysis for the differential diagnosis of profound cerebrospinal fluid folate deficiency

Aida Ormazábal, Belén Perez-Dueñas, Cristina Sierra, Roser Urreitzi, Julio Montoya, Mercedes Serrano, Jaume Campistol, Angels García-Cazorla, Mercé Pineda, Rafael Artuch

Journal:

Clinical Biochemistry

Year:

2011

Language:

english

File:

PDF, 144 KB

english, 2011

23

Biochemical parameters to assess choroid plexus dysfunction in Kearns–Sayre syndrome

M. Tondo, F. Ramon, I. Málaga, M. O'Callaghan, M. Serrano, S. Emperador, A. Ormazabal, E. Ruiz-Pesini, J. Montoya, M.T. Garcia-Silva, A. Garcia-Cazorla, M. Pineda, R. Artuch

Journal:

Clinical Biochemistry

Year:

2011

Language:

english

File:

PDF, 55 KB

english, 2011

24

Assessment of plasma ammonia and glutamine concentrations in urea cycle disorders

M. Serrano, A. Ormazábal, M.A. Vilaseca, N. Lambruschini, R. Garcia-Romero, S. Meavilla, B. Perez-Dueñas, M. Pineda, A. Garcia-Cazorla, J. Campistol, R. Artuch

Journal:

Clinical Biochemistry

Year:

2011

Language:

english

File:

PDF, 256 KB

english, 2011

25

Cranial ultrasound and chronological changes in molybdenum cofactor deficiency

Mercedes Serrano, Isabel Lizarraga, Jochen Reiss, Anna Paula Dias, Belén Pérez-Dueñas, Maria Antonia Vilaseca, Rafael Artuch, Jaume Campistol, Angels García-Cazorla

Journal:

Pediatric Radiology

Year:

2007

Language:

english

File:

PDF, 193 KB

english, 2007

26

A deletion in the human QP-C gene causes a complex

Sandrine Haut, Michèle Brivet, Guy Touati, Pierre Rustin, Sophie Lebon, Angela Garcia-Cazorla, Jean Marie Saudubray, Audrey Boutron, Alain Legrand, Abdelhamid Slama

Journal:

Year:

2003

Language:

english

File:

PDF, 183 KB

english, 2003

27

Clinical and molecular genetic features of ARC syndrome

Paul Gissen, Louise Tee, Colin A. Johnson, Emmanuelle Genin, Almuth Caliebe, David Chitayat, Carol Clericuzio, Jonas Denecke, Maja Di Rocco, Björn Fischler, David FitzPatrick, Angeles García-Cazorla,

Journal:

Year:

2006

Language:

english

File:

PDF, 190 KB

english, 2006

28

Treatment of severe osteoporosis with alendronate in a patient with lysinuric protein intolerance

L. Gömez, A. García-Cazorla, A. Gutiérrez, R. Artuch, V. Varea, J. Martín, S. Pinillos, M. A. Vilaseca

Journal:

Journal of Inherited Metabolic Disease

Year:

2006

Language:

english

File:

PDF, 108 KB

english, 2006

29

Secondary alteration of the transferrin isoelectric focusing pattern in a case of bacterial meningitis

E. Quintana, S. Gala, A. García-Cazorla, R. Montero, C. Muñoz-Almagro, M. A. Vilaseca, P. Briones, R. Artuch

Journal:

Journal of Inherited Metabolic Disease

Year:

2007

Language:

english

File:

PDF, 127 KB

english, 2007

30

Mental retardation and inborn errors of metabolism

A. García-Cazorla, N. I. Wolf, M. Serrano, U. Moog, B. Pérez-Dueñas, P. Póo, M. Pineda, J. Campistol, G. F. Hoffmann

Journal:

Journal of Inherited Metabolic Disease

Year:

2009

Language:

english

File:

PDF, 189 KB

english, 2009

31

Inborn errors of metabolism and motor disturbances in children

A. García-Cazorla, N. I. Wolf, M. Serrano, B. Pérez-Dueñas, M. Pineda, J. Campistol, E. Fernández-Alvarez, J. Colomer, S. DiMauro, G. F. Hoffmann

Journal:

Journal of Inherited Metabolic Disease

Year:

2009

Language:

english

File:

PDF, 197 KB

english, 2009

32

Epilepsy and inborn errors of metabolism in children

N. I. Wolf, A. García-Cazorla, G. F. Hoffmann

Journal:

Journal of Inherited Metabolic Disease

Year:

2009

Language:

english

File:

PDF, 587 KB

english, 2009

33

Study of inborn errors of metabolism in urine from patients with unexplained mental retardation

Angela Sempere, Angela Arias, Guillermo Farré, Judith García-Villoria, Pilar Rodríguez-Pombo, Lurdes R. Desviat, Begoña Merinero, Angels García-Cazorla, Maria A. Vilaseca, Antonia Ribes, Rafael Artuch

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 135 KB

english, 2010

34

Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in theFOLR1gene

Belén Pérez-Dueñas, Claudio Toma, Aida Ormazábal, Jordi Muchart, Francesc Sanmartí, Georgina Bombau, Mercedes Serrano, Angels García-Cazorla, Bru Cormand, Rafael Artuch

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 582 KB

english, 2010

35

Analysis of synaptic proteins in the cerebrospinal fluid as a new tool in the study of inborn errors of neurotransmission

Sofia T. Duarte, Carlos Ortez, Ana Pérez, Rafael Artuch, Angels García-Cazorla

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 215 KB

english, 2011

36

Cerebellar Hemorrhage in a Patient with Propionic Acidemia

Daniel Velasco-Sánchez, Lilianne Gómez-Lopez, María Antonia Vilaseca, Mercedes Serrano, Sara Massaguer, Jaume Campistol, Ángels García-Cazorla

Journal:

Year:

2009

Language:

english

File:

PDF, 103 KB

english, 2009

37

Analysis of Coenzyme Q10 in muscle and fibroblasts for the diagnosis of CoQ10 deficiency syndromes

Raquel Montero, José Antonio Sánchez-Alcázar, Paz Briones, Ángeles Rodríguez Hernández, Mario D. Cordero, Eva Trevisson, Leonardo Salviati, Mercé Pineda, Angels García-Cazorla, Plácido Navas, Rafael A

Journal:

Clinical Biochemistry

Year:

2008

Language:

english

File:

PDF, 128 KB

english, 2008

38

HPLC with electrochemical and fluorescence detection procedures for the diagnosis of inborn errors of biogenic amines and pterins

Aida Ormazabal, Angels García-Cazorla, Yolanda Fernández, Emilio Fernández-Álvarez, Jaume Campistol, Rafael Artuch

Journal:

Journal of Neuroscience Methods

Year:

2005

Language:

english

File:

PDF, 185 KB

english, 2005

39

Ancient origin of the CTH alelle carrying the c.200C>T (p.T67I) variant in patients with cystathioninuria

C Espinós, A García-Cazorla, D Martínez-Rubio, E Martínez-Martínez, MA Vilaseca, B Pérez-Dueñas, V Kožich, F Palau, R Artuch

Journal:

Clinical Genetics

Year:

2010

Language:

english

File:

PDF, 595 KB

english, 2010

40

White matter alterations associated with chromosomal disorders

Angels García-Cazorla, Anna Sans, Miguel Baquero, María Dolores García-Bargo, Montse Arellano, Pilar Poo, Esther Gean, Jaume Campistol

Journal:

Developmental Medicine & Child Neurology

Year:

2004

Language:

english

File:

PDF, 1.01 MB

english, 2004

41

Secondary abnormalities of neurotransmitters in infants with neurological disorders

A García-Cazorla, M Serrano, B Pérez-Dueñas, V González, A Ormazábal, M Pineda, E Fernández-álvarez, J M D Campistol, R M D Artuch

Journal:

Developmental Medicine & Child Neurology

Year:

2007

Language:

english

File:

PDF, 79 KB

english, 2007

42

X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiency

García-Villoria, Judit, Gort, Laura, Madrigal, Irene, Fons, Carme, Fernández, Cristina, Navarro-Sastre, Aleix, Milà, Montserrat, Briones, Paz, García-Cazorla, Angeles, Campistol, Jaume

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 263 KB

english, 2010

43

Reply to He et al

Fons, Carme, Fernández, Cristina, Navarro-Sastre, Aleix, Mila, M, Briones, Paz, García-Cazorla, Ma Angeles, Campistol, Jaume, García-Villoria, Judit, Gort, Laura, Madrigal, Irene

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 96 KB

english, 2010

44

Muscle coenzyme Q10 concentrations in patients with probable and definite diagnosis of respiratory chain disorders

R. Montero, R. Artuch, P. Briones, A. Nascimento, A. García-Cazorla, M.A. Vilaseca, J.A. Śnchez-Alćzar, P. Navas, J. Montoya, M. Pineda

Journal:

Year:

2005

Language:

english

File:

PDF, 61 KB

english, 2005

45

Cerebrospinal fluid pterins and neurotransmitters in early severe epileptic encephalopathies

Sofia Duarte, Francesc Sanmarti, Veronica Gonzalez, Belen Perez Duenas, Aida Ormazabal, Rafael Artuch, Jaime Campistol, Angels Garcia-Cazorla

Journal:

Brain and Development

Year:

2008

Language:

english

File:

PDF, 109 KB

english, 2008

46

TITF-1 gene mutation in a case of sporadic non-progressive chorea. Response to levodopa treatment

Carmen Fons, Patrizia Rizzu, Angels Garcia-Cazorla, Loreto Martorell, Aida Ormazabal, Rafael Artuch, Jaume Campistol, Emilio Fernandez-Alvarez

Journal:

Brain and Development

Year:

2012

Language:

english

File:

PDF, 93 KB

english, 2012

47

Assessment of the perimortem protocol in neonates for the diagnosis of inborn errors of metabolism

I. Marín-Valencia, M.A. Vilaseca, M. Thió, A. García-Cazorla, R. Artuch, J. Campistol

Journal:

European Journal of Paediatric Neurology

Year:

2010

Language:

english

File:

PDF, 172 KB

english, 2010

48

Long-term evolution of eight Spanish patients with CDG type Ia: Typical and atypical manifestations

B. Pérez-Dueñas, A. García-Cazorla, M. Pineda, P. Poo, J. Campistol, V. Cusí, E. Schollen, G. Matthijs, S. Grunewald, P. Briones, C. Pérez-Cerdá, R. Artuch, M.A. Vilaseca

Journal:

European Journal of Paediatric Neurology

Year:

2009

Language:

english

File:

PDF, 410 KB

english, 2009

49

Brain injury in glutaric aciduria type I: The value of functional techniques in magnetic resonance imaging

Belén Pérez-Dueñas, Alberto De La Osa, Antoni Capdevila, Aleix Navarro-Sastre, Andy Leist, Antonia Ribes, Angels García-Cazorla, Mercedes Serrano, Mercedes Pineda, Jaume Campistol

Journal:

European Journal of Paediatric Neurology

Year:

2009

Language:

english

File:

PDF, 639 KB

english, 2009

50

Hypokinetic-rigid syndrome in children and inborn errors of metabolism

A. García-Cazorla, C. Ortez, B. Pérez-Dueñas, M. Serrano, M. Pineda, J. Campistol, E. Fernández-Álvarez

Journal:

European Journal of Paediatric Neurology

Year:

2011

Language:

english

File:

PDF, 256 KB

english, 2011

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