Marisa L. Giros

Barcelona, CT, Spain

Last Updated: 09/26/2026

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Found 12 publications

International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.

International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.

Journal: Journal of inherited metabolic disease

Published: February 12, 2019

Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain.

Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain.

Journal: Clinical genetics

Published: November 23, 2018

Two novel variants of the ABCG5 gene cause xanthelasmas and macrothrombocytopenia: a brief review of hematologic abnormalities of sitosterolemia.

Two novel variants of the ABCG5 gene cause xanthelasmas and macrothrombocytopenia: a brief review of hematologic abnormalities of sitosterolemia.

Journal: Journal of thrombosis and haemostasis : JTH

Published: May 02, 2017

Severe infantile parkinsonism because of a de novo mutation on DLP1 mitochondrial-peroxisomal protein.

Severe infantile parkinsonism because of a de novo mutation on DLP1 mitochondrial-peroxisomal protein.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: October 22, 2016

Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation.

Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation.

Journal: Human mutation

Published: August 24, 2016

Lysine Restriction and Pyridoxal Phosphate Administration in a NADK2 Patient.

Lysine Restriction and Pyridoxal Phosphate Administration in a NADK2 Patient.

Journal: Pediatrics

Published: July 26, 2016

Cholestane-3β,5α,6β-triol: high levels in Niemann-Pick type C, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiency.

Cholestane-3β,5α,6β-triol: high levels in Niemann-Pick type C, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiency.

Journal: Journal of lipid research

Published: June 25, 2015

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

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

Journal: Orphanet journal of rare diseases

Published: June 13, 2015

Autophagy induction halts axonal degeneration in a mouse model of X-adrenoleukodystrophy.

Autophagy induction halts axonal degeneration in a mouse model of X-adrenoleukodystrophy.

Journal: Acta neuropathologica

Published: September 19, 2014

The proteasome inhibitor bortezomib reduced cholesterol accumulation in fibroblasts from Niemann-Pick type C patients carrying missense mutations.

The proteasome inhibitor bortezomib reduced cholesterol accumulation in fibroblasts from Niemann-Pick type C patients carrying missense mutations.

Journal: The FEBS journal

Published: May 09, 2014

The role of the abnormalities in the distal pathway of cholesterol biosynthesis in the Conradi-Hünermann-Happle syndrome.

The role of the abnormalities in the distal pathway of cholesterol biosynthesis in the Conradi-Hünermann-Happle syndrome.

Journal: Biochimica et biophysica acta

Published: June 03, 2013

Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature.

Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature.

Journal: The British journal of dermatology

Published: November 30, 2011

Showing 1-12 of 12

Last Updated: 09/26/2026