Publications by authors named "Antonio Baldellou"

7Publications

Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome.

Authors:
Juan Pié María Concepción Gil-Rodríguez Milagros Ciero Eduardo López-Viñas María Pilar Ribate María Arnedo Matthew A Deardorff Beatriz Puisac Jesús Legarreta Juan Carlos de Karam Encarnación Rubio Inés Bueno Antonio Baldellou M Teresa Calvo Nuria Casals José Luis Olivares Ana Losada Fausto G Hegardt Ian D Krantz Paulino Gómez-Puertas Feliciano J Ramos

Am J Med Genet A 2010 Apr;152A(4):924-9

Laboratory of Clinical Genetics and Functional Genomics, Department of Pharmacology, Medical School, University of Zaragoza, Zaragoza, Spain.

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April 2010

Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: difficulties in the diagnosis.

Authors:
Judit García-Villoria Aleix Navarro-Sastre Carme Fons Celia Pérez-Cerdá Antonio Baldellou Miguel Angel Fuentes-Castelló Inmaculada González Arturo Hernández-Gonzalez Cristina Fernández Jaume Campistol Carina Delpiccolo Nuria Cortés Angel Messeguer Paz Briones Antonia Ribes

Clin Biochem 2009 Jan 25;42(1-2):27-33. Epub 2008 Oct 25.

Sección de Errores Congénitos del Metabolismo (IBC), Servicio de Bioquímica y Genética Molecular, and CIBER de Enfermedades Raras, Hospital Clínic, Barcelona, Spain.

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January 2009

Paediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoring.

Authors:
Antonio Baldellou Generoso Andria Pauline E Campbell Joel Charrow Ian J Cohen Gregory A Grabowski Chris M Harris Paige Kaplan Kieran McHugh Eugen Mengel Ashok Vellodi

Eur J Pediatr 2004 Feb 16;163(2):67-75. Epub 2003 Dec 16.

Unidad de Enfermedades Metabólicas, Hospital Infantil Miguel Servet, Po. Isabel la Católica, 350009 Zaragoza, Spain.

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February 2004

Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements.

Authors:
Gregory A Grabowski Generoso Andria Antonio Baldellou Pauline E Campbell Joel Charrow Ian J Cohen Chris M Harris Paige Kaplan Eugen Mengel Miguel Pocovi Ashok Vellodi

Eur J Pediatr 2004 Feb 16;163(2):58-66. Epub 2003 Dec 16.

Division and Program in Human Genetics, Children's Hospital Research Foundation, Cincinnati, OH 45229-3039, USA.

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February 2004

Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: high prevalence of T191M and absence of I278T or G307S.

Authors:
Roser Urreizti Susana Balcells Marga Rodés Laura Vilarinho Antonio Baldellou María Luz Couce Carmen Muñoz Jaume Campistol Xavier Pintó María Antonia Vilaseca Daniel Grinberg

Hum Mutat 2003 Jul;22(1):103

Departament de Genètica, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain.

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July 2003

Insulin-like growth factors in childhood-onset Gaucher disease.

Authors:
Segundo Rite Antonio Baldellou Pilar Giraldo Jose Ignacio Labarta Manuel Giralt Daniel Rubio-Felix Ana Guallar Jose Ignacio Perez-Calvo Esteban Mayayo Angel Ferrandez Miguel Pocovi

Pediatr Res 2002 Jul;52(1):109-12

Department of Paediatrics, Miguel Servet Hospital, Zaragoza, Spain.

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July 2002

Characterization of six mutations in five Spanish patients with mitochondrial acetoacetyl-CoA thiolase deficiency: effects of amino acid substitutions on tertiary structure.

Authors:
Toshiyuki Fukao Haruki Nakamura Kozue Nakamura Celia Perez-Cerda Antonio Baldellou Carlos R Barrionuevo Francisco Girona Castello Yoshinori Kohno Magdalena Ugarte Naomi Kondo

Mol Genet Metab 2002 Mar;75(3):235-43

Department of Pediatrics, Gifu University School of Medicine, Gifu, Gifu 500-8076, Japan.

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March 2002