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List of works by Guillem Pintos-Morell

A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype

scientific article published on 14 October 2019

A coordinated transition model for patients with cystinosis: from pediatrics to adult care.

scientific article

Alagille syndrome associated with intestinal atresia.

scientific article published in December 2015

Altered leukotriene generation in leukocytes from cystinotic children

scientific article published on 01 November 1994

Analysis of Renal and Cardiac Outcomes in Male Participants in the Fabry Outcome Survey Starting Agalsidase Alfa Enzyme Replacement Therapy Before and After 18 Years of Age

scientific article published on 03 June 2020

Anti-neutrophil cytoplasmic auto-antibodies-associated vasculitis with pulmonary and renal involvement

scientific article published on 01 June 1993

Biotinidase deficiency: the two faces of metabolic screening ⬇️

scientific article published on July 20, 2011

Cardio- Renal Outcomes With Long- Term Agalsidase Alfa Enzyme Replacement Therapy: A 10- Year Fabry Outcome Survey (FOS) Analysis

scientific article published on 25 October 2019

Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey.

scientific article

Correction to: Manifesting heterozygotes in McArdle disease: a myth or a reality-role of statins

scientific article published on 01 November 2018

Cytochrome c oxidase deficiency in muscle with dicarboxylic aciduria and renal tubular acidosis.

scientific article published in April 1990

Effects of enzyme replacement therapy in Fabry disease--a comprehensive review of the medical literature.

scientific article

Eight novel variants in the SLC34A2 gene in pulmonary alveolar microlithiasis

scientific article published on 27 February 2020

Elosulfase alfa for mucopolysaccharidosis type IVA: Real-world experience in 7 patients from the Spanish Morquio-A early access program.

scientific article published on 5 April 2018

Enzyme replacement therapy with agalsidase alfa in children with Fabry disease

scientific article published on 01 January 2007

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

scientific article published on 01 November 2015

Exercise and Preexercise Nutrition as Treatment for McArdle Disease.

scientific article

Fabry disease and the clinical spectrum of angiokeratomas ⬇️

scientific article published on September 10, 2012

Fabry disease and the skin: data from FOS, the Fabry outcome survey.

scientific article

Fabry disease in Spain: description of Spanish patients and a comparison with other European countries using data from the Fabry Outcome Survey (FOS).

scientific article

Fabry disease in children and the effects of enzyme replacement treatment.

scientific article published on 26 February 2009

Gender Differences in the Application of Spanish Criteria for Initiation of Enzyme Replacement Therapy for Fabry Disease in the Fabry Outcome Survey.

scientific article

Genes and exercise intolerance: insights from McArdle disease

scientific article published on 13 October 2015

Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update.

scientific article

Increased monocyte-dependent suppression of polyclonal activation of B lymphocytes from cystinotic children

scientific article published on 01 September 1991

Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: A Fabry Outcome Survey analysis

scientific article published on 5 March 2015

Long-term follow-up of a patient with primary hypomagnesaemia and secondary hypocalcaemia due to a novel TRPM6 mutation

scientific article published on 12 June 2008

Long-term outcomes with agalsidase alfa enzyme replacement therapy: Analysis using deconstructed composite events

scientific article published on 9 November 2017

Manifesting heterozygotes in McArdle disease: a myth or a reality-role of statins

scientific article published on 20 June 2018

Missense mutations have unexpected consequences: The McArdle disease paradigm

scientific article published on 26 July 2018

Mitochondrial cytopathies and renal tubular acidosis

scientific article published on 01 June 1997

Molybdenum cofactor deficiency associated with Dandy-Walker malformation

scientific article published on 01 January 1995

Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia

scientific article

Myotilinopathy unmasked by statin treatment: A case report.

scientific article published on 19 January 2018

Nanotechnology-based approaches for treating lysosomal storage disorders, a focus on Fabry disease

scientific article published on 13 December 2020

Natural history and effects of enzyme replacement therapy in children and adolescents with Fabry disease

Neonatal hemolytic-uremic syndrome associated with methylmalonic aciduria and homocystinuria

scientific article published on 01 July 1996

Paediatric Fabry disease: prognostic significance of ocular changes for disease severity

scientific article

Preliminary Findings on CTG Expansion Determination in Different Tissues from Patients with Myotonic Dystrophy Type 1

scientific article published on 07 November 2020

Quantification of urinary derivatives of Phenylbutyric and Benzoic acids by LC-MS/MS as treatment compliance biomarkers in Urea Cycle disorders

scientific article published on 01 August 2019

Rare Neurodegenerative Diseases: Clinical and Genetic Update.

scientific article published in January 2017

Recommendations for the management of tyrosinaemia type 1

scientific article

Sotos syndrome: a novel nonsense mutation in NSD1 gene, presenting with neonatal cutis laxa

scientific article published on 8 April 2011

Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision

scientific article published on 15 May 2019

The Need for Establishing a Universal CTG Sizing Method in Myotonic Dystrophy Type 1

scientific article published on 07 July 2020

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

scientific article published on 15 April 2015

Therapeutic goals in the treatment of Fabry disease.

scientific article published in November 2010

Trichorhinophalangeal syndrome, type I, with avascular necrosis of the femoral head

scientific article published on 01 March 1993

Tyrosinemia type 1 in Spain: mutational analysis, treatment and long-term outcome

scientific article published on 01 December 2011

Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases

scientific article

Urinary biomarker investigation in children with Fabry disease using tandem mass spectrometry.

scientific article published on 19 August 2014

[Diagnostic strategy for mitochondrial diseases]

scientific article published on 01 July 1999

[Fabry disease in Spain: first analysis of the response to enzyme replacement therapy]

scientific article published on 01 October 2006

[Fabry's disease: diagnosis in the pediatric age group]

scientific article published on 01 July 2002

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