Search filters

List of works by Frédérique Sabourdy

Beta-mannosidosis: a new cause of spinocerebellar ataxia.

scientific article published on 5 November 2008

Chromatin-Bound MDM2 Regulates Serine Metabolism and Redox Homeostasis Independently of p53.

scientific article

Danon disease: further clinical and molecular heterogeneity.

scientific article published in June 2009

Danon disease: intrafamilial phenotypic variability related to a novel LAMP-2 mutation.

scientific article published on 16 December 2010

Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy.

scientific article published on 21 November 2013

Farber lipogranulomatosis type 1--late presentation and early death in a Croatian boy with a novel homozygous ASAH1 mutation.

scientific article published on 7 July 2010

Functions of sphingolipid metabolism in mammals--lessons from genetic defects.

scientific article published on 02 February 2008

Genetic disorders of simple sphingolipid metabolism.

scientific article published on January 2013

Hereditary peroxisomal diseases

scientific article

Human genetic disorders of sphingolipid biosynthesis

scientific article

Impact of mutations within the [Fe-S] cluster or the lipoic acid biosynthesis pathways on mitochondrial protein expression profiles in fibroblasts from patients.

scientific article

Inherited monogenic defects of ceramide metabolism: Molecular bases and diagnoses

scientific article published on 22 May 2019

Is active acid sphingomyelinase required for the antiproliferative response to rituximab?

scientific article published on 01 March 2011

Label-free quantitative urinary proteomics identifies the arginase pathway as a new player in congenital obstructive nephropathy

scientific article

Monogenic neurological disorders of sphingolipid metabolism

scientific article published on 07 February 2015

Neurocognitive profiles in MSUD school-age patients.

scientific article

Palmitoyl protein thioesterase 1 modulates tumor necrosis factor alpha-induced apoptosis.

scientific article

Pregnancy outcome in Refsum disease: Affected fetuses and children born to an affected mother

scientific article published on 14 March 2019

Serpin A1 is overexpressed in ALK+ anaplastic large cell lymphoma and its expression correlates with extranodal dissemination.

scientific article published on 10 August 2006

Transcriptome analysis of Sinorhizobium meliloti during symbiosis

scientific article

Tumorigenic poxviruses: growth factors in a viral context?

scientific article published on 01 December 2004

[Pulmonary embolism in young adults. Think of homocysteine]

scientific article published on 21 January 2014

Paulina is supported by:

About Paulina

Help