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Long-term survival in a child with severe encephalpathy, multiple respiratory chain deficiency and GFM1 mutations (vol 6, 102, 2015)

  • Brito S
  • Thompson K
  • Campistol-Plana J
  • Colomer J
  • Hardy SA
  • He L
  • Fernández-Marmiesse A
  • Palacios L
  • Jou-Munoz C
  • Jimenez-Mallebrera C
  • Armstrong-Moron J
  • Montero-Sanchez R
  • Artuch-Iriberri R
  • Tischner C
  • Wenz T
  • McFarland R
  • Taylor RW
Proyecto:


Neuroimaging patterns in glutaric aciduria type I: The value of functional techniques in magnetic resonance imaging

  • Pérez-Dueñas B
  • De la Osa, A.
  • Navarro-Sastre, A.
  • Capdevila, A.
  • Leist, A.
  • Ribes, A.
  • Garcia-Cazorla A
  • Pineda M
  • Campistol-Plana J
Proyecto:


SECONDARY ABNORMALITIES OF BIOGENIC AMINES IN INFANTS WITH NEUROLOGICAL DISORDERS

  • Pérez-Dueñas B
  • Garcia-Cazorla A
  • Ormazabal-Herrero A
  • Artuch-Iriberri R
  • Vernet, A.
  • Pineda M
  • Sans, A.
  • Fernandez, E.
  • Campistol-Plana J
Proyecto:


Issues with European guidelines for phenylketonuria Reply

  • van Spronsen FJ
  • van Wegberg AMJ
  • Ahring K
  • Bélanger-Quintana A
  • Blau N
  • Bosch AM
  • Burlina A
  • Campistol-Plana J
  • Feillet F
  • Gizewska M
  • Huijbregts SC
  • Kearney S
  • Leuzzi V
  • Maillot F
  • Muntau AC
  • Trefz FK
  • van Rijn M
  • MacDonald A
Proyecto:


The complete European guidelines on phenylketonuria: diagnosis and treatment

  • van Wegberg AMJ
  • MacDonald A
  • Ahring K
  • Bélanger-Quintana A
  • Blau N
  • Bosch AM
  • Burlina A
  • Campistol-Plana J
  • Feillet F
  • Gizewska M
  • Huijbregts SC
  • Kearney S
  • Leuzzi V
  • Maillot F
  • Muntau AC
  • van Rijn M
  • Trefz F
  • Walter JH
  • van Spronsen FJ
Proyecto:


Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients

  • Batllori-Tragant M
  • Molero M
  • Arrabal L
  • Heras JL
  • Fernandez-Ramos JA
  • Gutiérrez-Solana LG
  • Ibáñez-Micó S
  • Domingo R
  • Campistol-Plana J
  • Ormazabal-Herrero A
  • Sedel F
  • Opladen T
  • Zouvelou B
  • Pons R
  • Garcia-Cazorla A
  • Lopez-Laso E
  • Artuch-Iriberri R
Proyecto:


Protocolo de diagnóstico, tratamiento y seguimiento de las hiperfenilalaninemias

  • Bélanger-Quintana A
  • Campistol-Plana J
  • Stanescu S
  • Gassió-Subirachs R
  • Castro M
  • Arrieta F
  • Martinez-Pardo M
Proyecto:


Encephalopathies with intracranial calcification in children: clinical and genetic characterization.

  • Tonduti D
  • Panteghini C
  • Pichiecchio A
  • Decio A
  • Carecchio M
  • Reale C
  • Moroni I
  • Nardocci N
  • Campistol-Plana J
  • Garcia-Cazorla A
  • Pérez-Dueñas B
  • Cerebral Calcification International Study Group
  • Chiapparini L
  • Garavaglia B
  • Orcesi S
We present a group of patients affected by a paediatric onset genetic encephalopathy with cerebral calcification of unknown aetiology studied with Next Generation Sequencing (NGS) genetic analyses.
Proyecto:


White matter microstructural damage in early treated phenylketonuric patients.

  • González MJ
  • Rebollo M
  • Ripollés P
  • Gassió-Subirachs R
  • Ormazabal-Herrero A
  • Sierra-March C
  • Roura RC
  • Artuch-Iriberri R
  • Campistol-Plana J
Despite dietary intervention, individuals with early treated phenylketonuria (ETPKU) could present neurocognitive deficits and white matter (WM) abnormalities. The aim of the present study was to evaluate the microstructural integrity of WM pathways across the whole brain in a cohort of paediatric ETPKU patients compared with healthy controls (HCs), by collecting DTI-MRI (diffusion tensor magnetic resonance imaging) data and diffusion values (mean diffusivity (MD), radial diffusivity (RD) and fractional anisotropy (FA)).
Proyecto:


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