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List of works by Marisa Girós

A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis.

scientific article published on 27 January 2017

A key role for the peroxisomal ABCD2 transporter in fatty acid homeostasis.

scientific article published on 14 October 2008

ALDP expression in fetal cells and its application in prenatal diagnosis of X-linked adrenoleukodystrophy

scientific article published on 01 July 1997

Adrenoleucodistrofia ligada al cromosoma X: diagnóstico olvidado en niños con enfermedad de Addison idiopática

scientific article published on 01 April 2008

Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations.

scientific article published on 26 October 2007

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

scientific article

Cerebrotendinous xanthomatosis without tendinous xanthomas: presentation of two cases

scientific article

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

scientific article

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.

scientific article published on 02 March 2012

De novo missense mutation Y174S in exon 1 of the adrenoleukodystrophy (ALD) gene

article

Diagnosis of X-adrenoleucodystrophy phenotypic variants.

scientific article published in June 1993

Diffuse hair loss in Addison disease: a reason for X-linked adrenoleukodystrophy screening

scientific article published on 01 May 2012

Functional overlap between ABCD1 (ALD) and ABCD2 (ALDR) transporters: a therapeutic target for X-adrenoleukodystrophy

scientific article published on 15 October 2004

GM2 gangliosidosis diagnosis and carriers detection by fractionation of N-acetyl-beta-D-hexosaminidase by electrophoresis on cellulose acetate gel (author's transl)

scientific article published on 01 October 1977

Galactosaemia presenting as congenital pseudoafibrinogenaemia

scientific article published on 01 December 1999

Glycerol trioleate/glycerol trierucate therapy in X-linked adrenoleukodystrophy: saturated and unsaturated fatty acids in blood cells. Implications for the follow-up

scientific article published on 01 January 1996

Hepatic glycogenosis with defects in the glycogen breakdown pathway: urinary oligosaccharide profile

scientific article published on 01 January 1991

Identification of a new frameshift mutation (1801delAG) in the ALD gene

article

Immunolocalization of a 43 kDa peroxisomal membrane protein in the liver of patients with generalized peroxisomal disorders.

scientific article published in August 1995

Long Survival in a Case of Peroxisomal Biogenesis Disorder with Peroxisome Mosaicism in the Liver

scientific article published on 01 December 1996

Low beta-glucuronidase activity in a healthy member of a family with mucopolysaccharidosis VII

scientific article published on 01 January 1991

Lysine Restriction and Pyridoxal Phosphate Administration in a NADK2 Patient

scientific article published on 18 October 2016

Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome.

scientific article

Modifying the peroxisomes by cell & tissue culture: II. Fibroblasts.

scientific article published in January 2003

Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation

scientific journal article

Partial trisomy 13q22-qter associated to leukoencephalopathy and late onset generalised epilepsy

scientific article published on 29 April 2008

Peroxisome mosaics in the liver of patients and the regulation of peroxisome expression in rat hepatocyte cultures.

scientific article published in December 1996

Peroxisome mosaics.

scientific article

Phenotype variability in adrenoleukodystrophy. Presentation of three new cases and a review of literature

scientific article published in July 1996

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

scientific article

Second spontaneous pregnancy in a galactosaemic woman homozygous for the Q188R mutation

scientific article published on 01 February 2001

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

scientific article published on 24 April 2017

Severe neonatal galactose-dependent disease with low-normal epimerase activity

scientific article published on 01 January 1995

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

scientific article published on 21 August 2014

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

scientific article published on 11 September 2013

Tissue differences in the human N-acetyl-beta-D-hexosaminidase isoenzymatic forms

scientific article published on 01 January 1980

X-linked adrenoleukodystrophy in Spain. Identification of 26 novel mutations in the ABCD1 gene in 80 patients. Improvement of genetic counseling in 162 relative females.

scientific article published in May 2005

X-linked adrenoleukodystrophy: Phenotype distribution and expression of ALDP in Spanish kindreds ⬇️

scientific article published on April 13, 1998

[Sandhoff's disease (GM2 gangliosidosis, type II). Presentation of a case with a clinical and biochemical study. Carrier detection]

scientific article published on 01 February 1984

[Smith-Lemli-Opitz syndrome: abnormal cholesterol biosynthesis]

scientific article published on 01 June 1997

[The diagnosis of peroxisomal disorders in Spain during the period 1987-1997]

scientific article published on 01 January 1999

[Usefulness of cholestanol levels in the diagnosis and follow-up of patients with cerebrotendinous xanthomatosis]

scientific article published on 22 February 2011

[Zellweger syndrome. Reports on two new cases]

scientific article published on 01 June 2003

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