(Q38027745)

27 August 2017

Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases (English)

1 reference

27 August 2017

0 references

1 reference

F Lamari

1

1 reference

27 August 2017

F Mochel

series ordinal

2

1 reference

27 August 2017

F Sedel

series ordinal

3

1 reference

27 August 2017

J M Saudubray

series ordinal

4

1 reference

27 August 2017

20 July 2012

1 reference

Journal of Inherited Metabolic Disease

27 August 2017

1 reference

27 August 2017

36

1 reference

27 August 2017

3

1 reference

27 August 2017

411-425

1 reference

https://scigraph.springernature.com/pub.10.1007/s10545-012-9509-7

27 August 2017

0 references

cites work

Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

SPTLC1 is mutated in hereditary sensory neuropathy, type 1

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

A novel acylglycerol kinase that produces lysophosphatidic acid modulates cross talk with EGFR in prostate cancer cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

A novel X-linked gene, G4.5. is responsible for Barth syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

Neuropathy target esterase: an essential enzyme for neural development and axonal maintenance

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

From glycosylation disorders to dolichol biosynthesis defects: a new class of metabolic diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

Regulation of transbilayer plasma membrane phospholipid asymmetry

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

Three mammalian lipins act as phosphatidate phosphatases with distinct tissue expression patterns

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

Cellular phospholipid uptake: flexible paths to coregulate the functions of intracellular lipids

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

A novel Refsum-like disorder that maps to chromosome 20.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

Oral L-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

CGI-58, the causative gene for Chanarin-Dorfman syndrome, mediates acylation of lysophosphatidic acid

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

Clinical and genetic delineation of neurodegeneration with brain iron accumulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

The enigmatic role of tafazzin in cardiolipin metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography-mass spectrometry as a diagnostic test for Barth syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

Congenital disorders of glycosylation (CDG): it's (nearly) all in it!

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

Fatty acid elongases in mammals: their regulation and roles in metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

Mutation characterization and genotype-phenotype correlation in Barth syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

Mitochondrial localization of human PANK2 and hypotheses of secondary iron accumulation in pantothenate kinase-associated neurodegeneration

21 January 2018

2 references

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

21 January 2018

12 December 2020

X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

PLA2G6 mutation underlies infantile neuroaxonal dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

A view on sphingolipids and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

Bloodspot assay using HPLC-tandem mass spectrometry for detection of Barth syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

21 January 2018

Endocannabinoid overload

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

Successful cardiac transplantation in Barth syndrome--single-centre experience of four patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

Leukotriene C4-synthesis deficiency: a new inborn error of metabolism linked to a fatal developmental syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

Infantile neuroaxonal dystrophy: clinical spectrum and diagnostic criteria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

A new congenital muscular dystrophy with mitochondrial structural abnormalities.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

Recent insights into the structure and function of comparative gene identification-58.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

Making heads or tails of phospholipids in mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

Cyclooxygenases, lipoxygenases, and epoxygenases in CNS: their role and involvement in neurological disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

Neurological findings in triosephosphate isomerase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

Lipidomics reveals a remarkable diversity of lipids in human plasma

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

The human plasma lipidome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

Neuropathy target esterase gene mutations cause motor neuron disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

The long and short of fatty acid synthesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

Enzymatic diagnosis of Sjögren-Larsson syndrome using electrospray ionization mass spectrometry

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

Congenital cataract and mitochondrial myopathy of skeletal and heart muscle associated with lactic acidosis after exercise

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retina

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

A rostrocaudal muscular dystrophy caused by a defect in choline kinase beta, the first enzyme in phosphatidylcholine biosynthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren-Larsson syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

Defective metabolism of leukotriene B4 in the Sjögren-Larsson syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

Clinical and biochemical effects of zileuton in patients with the Sjögren-Larsson syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

Multi-system disorders of glycosphingolipid and ganglioside metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

Phenotypic spectrum of patients with PLA2G6 mutation and PARK14-linked parkinsonism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9509-7

Erythrocyte and leukocyte phosphoglycerate kinase deficiency with neurologic disease

21 January 2018

1 reference

12 December 2020

Hereditary sensory neuropathy type I

1 reference

12 December 2020

Barth syndrome without 3-methylglutaconic aciduria.

1 reference

12 December 2020

A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy

1 reference

12 December 2020

Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia

1 reference

12 December 2020

Neurodegeneration with brain iron accumulation

1 reference

12 December 2020

Infantile neuroaxonal dystrophy

1 reference

12 December 2020

Ichthyosiform dermatosis with systemic lipidosis.

1 reference

12 December 2020

A serine synthesis defect presenting with a Charcot-Marie-Tooth-like polyneuropathy.

1 reference

12 December 2020

Three faces of the same gene: FA2H links neurodegeneration with brain iron accumulation, leukodystrophies, and hereditary spastic paraplegias

1 reference

12 December 2020

Catalytic function of PLA2G6 is impaired by mutations associated with infantile neuroaxonal dystrophy but not dystonia-parkinsonism

1 reference

12 December 2020

10.1007/S10545-012-9509-7

Identifiers

DOI

1 reference

Dimensions Publication ID

27 August 2017

0 references

1 reference