María José de Castro López

Treatment with UX111 reduced cerebrospinal fluid (CSF) heparan sulfate (HS) exposure and stabilized or improved functioning across dose, age, and stage of MPS IIIA

Heather Lau, Kaushik Patra, Melissa Wolf, Nicholas J.C. Smith et autres

Gene therapy in neuronopathic lysosomal storage disorders

Aimée Donald, Claire Horgan, María José de Castro López, Simon Jones et autres

Lysosomal storage disorders are a group of multisystem monogenic conditions caused mostly by enzyme deficiencies which disrupt lysosomal functioning. Those which result in neuronal dysfunction are considered 'neuronopathic'. These neurodegenerative conditions, while individually rare, are collectively not uncommon, and are attractive targets …

gb (code pays fourni par la source)

Does Early Diagnosis and Treatment Alter the Clinical Course of Wolman Disease? Divergent Trajectories in Two Siblings and a Consideration for Newborn Screening

María José de Castro López, F. White, Victoria Holmes, Jane Roberts et autres

Wolman disease (WD) is a lethal disorder defined by the deficiency of the lysosomal acid lipase enzyme. Patients present with intestinal failure, malnutrition, and hepatosplenomegaly. Enzyme replacement therapy (ERT) with dietary substrate reduction (DSR) significantly improves survival. We sought to determine the …

gb (code pays fourni par la source)

Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease

Javier de las Heras, Carolina Almohalla, Javier Blasco‐Alonso, Mafalda Bourbon et autres

Lysosomal acid lipase deficiency (LAL-D) is an ultra-rare lysosomal storage disease with two distinct phenotypes, an infantile-onset form (formerly Wolman disease) and a later-onset form (formerly cholesteryl ester storage disease). The objective of this narrative review is to examine the most important …

es, pt, gb (code pays fourni par la source)

Cardiac phenotype in Hunter syndrome widening the spectrum

María José de Castro López, Bernardo López Abel, Paula Sanchez Pintos, Maria Jose Brion Martinez et autres

Interim results of Transpher A, a multicenter, single-dose clinical trial of UX111 gene therapy for Sanfilippo syndrome type A (mucopolysaccharidosis IIIA)

Kevin M. Flanigan, Nicholas Smith, María L. Couce, Deepa Rajan et autres

A phase I/II study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B

Nicole Muschol, Anja F. Koehn, Katharina von Cossel, İlyas Okur et autres

BackgroundSanfilippo type B is a mucopolysaccharidosis (MPS) with a major neuronopathic component characterized by heparan sulfate (HS) accumulation due to mutations in the NAGLU gene encoding alfa-N-acetyl-glucosaminidase. Enzyme replacement therapy for neuronopathic MPS requires efficient enzyme delivery throughout the brain in order …

de, tr, us, es, tw, gb, co (code pays fourni par la source)

Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIB

İlyas Okur, Fatih Süheyl Ezgü, Roberto Giugliani, Nicole Muschol et autres

OBJECTIVE: To characterize the longitudinal natural history of disease progression in pediatric subjects affected with mucopolysaccharidosis (MPS) IIIB. STUDY DESIGN: Sixty-five children with a confirmed diagnosis of MPS IIIB were enrolled into 1 of 2 natural history studies and followed for up …

tr, br, de, ar, us, es, tw, gb, co, au (code pays fourni par la source)

[Evaluation and perspective of 20 years of neonatal screening in Galicia. Program results.]

Paula Sánchez‐Pintos, José Ángel Cocho de Juan, Ma Dolores Bóveda Fontán, Daisy E. Castiñeiras Ramos et autres

Galician newborn screening program for early detection of endocrine and metabolic diseases began in 1978 and was a pioneer in expanded newborn screening in Spain with the incorporation of mass spectrometry in July 2000. As a primary objective, 28 diseases are screened, …

es (code pays fourni par la source)

Evaluación y perspectiva de 20 años de cribado neonatal en Galicia: Resultados del programa

Paula Sánchez‐Pintos, José Ángel Cocho de Juan, María Dolores Bóveda Fontán, Daisy E. Castiñeiras Ramos et autres

El Programa Gallego para la Detección Precoz de Enfermedades Endocrinas y Metabólicas se inició en 1978 y fue pionero en España en el cribado neonatal ampliado con la incorporación de la espectrometría de masas en julio de 2000. Como objetivo primario se …

es (code pays fourni par la source)

ICV-administered tralesinidase alfa (BMN 250 NAGLU-IGF2) is well-tolerated and reduces heparan sulfate accumulation in the CNS of subjects with Sanfilippo syndrome type B (MPS IIIB)

Maureen Cleary, Nicole Muschol, María L. Couce, Paul Harmatz et autres

gb, de, es, us, au, tw, tr, co (code pays fourni par la source)

Natural history data for young subjects with Sanfilippo syndrome type B (MPS IIIB)

Martha Solano Villarreal, İlyas Okur, Maureen Cleary, María José de Castro López et autres

co, tr, gb, es, us, au, tw, de (code pays fourni par la source)