(Q38270108)

1 September 2017

1 reference

title

The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview (English)

1 reference

1 September 2017

Àngels Garcia-Cazorla

1

1 reference

1 September 2017

Fanny Mochel

2

1 reference

1 September 2017

Foudil Lamari

3

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1 September 2017

Jean-Marie Saudubray

4

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1 September 2017

language of work or name

1 reference

21 November 2014

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Journal of Inherited Metabolic Disease

1 September 2017

1 reference

1 September 2017

38

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1 September 2017

1

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1 September 2017

19-40

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https://scigraph.springernature.com/pub.10.1007/s10545-014-9776-6

1 September 2017

0 references

cites work

Hepatic diseases related to triglyceride metabolism.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Phosphoinositides: tiny lipids with giant impact on cell regulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Defective presynaptic choline transport underlies hereditary motor neuropathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Heterozygous Mutations in the ADCK3 Gene in Siblings with Cerebellar Atrophy and Extreme Phenotypic Variability

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Lipid metabolism in myelinating glial cells: lessons from human inherited disorders and mouse models

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Rod and cone visual cycle consequences of a null mutation in the 11-cis-retinol dehydrogenase gene in man.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Mutations in the sterol 27-hydroxylase gene (CYP27A) cause hepatitis of infancy as well as cerebrotendinous xanthomatosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Clinical, radiological, and chondro-osseous findings in opsismodysplasia: survey of a series of 12 unreported cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Lipins, lipinopathies, and the modulation of cellular lipid storage and signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. jderry@immunex.com

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

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%2FS10545-014-9776-6

Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

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%2FS10545-014-9776-6

Association of a novel mutation in the retinol dehydrogenase 12 (RDH12) gene with autosomal dominant retinitis pigmentosa.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

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%2FS10545-014-9776-6

Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

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%2FS10545-014-9776-6

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%2FS10545-014-9776-6

Genetics of neurodegeneration with brain iron accumulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Excess phosphoinositide 3-kinase subunit synthesis and activity as a novel therapeutic target in fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

X-linked dominant chondrodysplasia punctata. Review of literature and report of a case

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Classification of the hereditary ataxias and paraplegias

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Dent Disease with mutations in OCRL1

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Isoprenoid biosynthesis in hereditary periodic fever syndromes and inflammation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

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%2FS10545-014-9776-6

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%2FS10545-014-9776-6

A novel mutation in COQ2 leading to fatal infantile multisystem disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

A novel mutation in PNPLA2 causes neutral lipid storage disease with myopathy and triglyceride deposit cardiomyovasculopathy: a case report and literature review

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Relapsing rhabdomyolysis due to peroxisomal alpha-methylacyl-coa racemase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG)

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

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%2FS10545-014-9776-6

Pantothenate kinase-associated neurodegeneration (PKAN) and PLA2G6-associated neurodegeneration (PLAN): review of two major neurodegeneration with brain iron accumulation (NBIA) phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

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%2FS10545-014-9776-6

Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Neurodegeneration with brain iron accumulation: update on pathogenic mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Impairment of brain and muscle energy metabolism detected by magnetic resonance spectroscopy in hereditary spastic paraparesis type 28 patients with DDHD1 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Type 2 Gaucher disease: 15 new cases and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Two Argentinean Siblings with CDG-Ix: A Novel Type of Congenital Disorder of Glycosylation?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

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%2FS10545-014-9776-6

Defective lipid transport and biosynthesis in recessive and dominant Stargardt macular degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

The role of the photoreceptor ABC transporter ABCA4 in lipid transport and Stargardt macular degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

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%2FS10545-014-9776-6

Congenital myopathy is caused by mutation of HACD1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

CYP4V2 in Bietti's crystalline dystrophy: ocular localization, metabolism of ω-3-polyunsaturated fatty acids, and functional deficit of the p.H331P variant

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

DGKE variants cause a glomerular microangiopathy that mimics membranoproliferative GN

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Clinicopathological report of retinitis pigmentosa with vitamin E deficiency caused by mutation of the alpha-tocopherol transfer protein gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Infantile Refsum disease: an inherited peroxisomal disorder. Comparison with Zellweger syndrome and neonatal adrenoleukodystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Metabolic pigmentary retinopathies: Diagnosis and therapeutic attempts

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

The eye as a window to inborn errors of metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Clinical diagnosis, biochemical findings and MRI spectrum of peroxisomal disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Abetalipoproteinemia. New insights into lipoprotein assembly and vitamin E metabolism from a rare genetic disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Neuropathy target esterase gene mutations cause motor neuron disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Molecular genetics of human retinal disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Fatty aldehyde and fatty alcohol metabolism: review and importance for epidermal structure and function

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Genomic organization and expression of the human fatty aldehyde dehydrogenase gene (FALDH)

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

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%2FS10545-014-9776-6

Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Recognition and management of fatty acid oxidation defects: a series of 107 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

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%2FS10545-014-9776-6

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%2FS10545-014-9776-6

Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7alpha-hydroxylase gene causes severe neonatal liver disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Liver disease caused by failure to racemize trihydroxycholestanoic acid: gene mutation and effect of bile acid therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

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%2FS10545-014-9776-6

Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Phospholipid meets all-trans-retinal: the making of RPE bisretinoids

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

General mitochondrial trifunctional protein (TFP) deficiency as a result of either alpha- or beta-subunit mutations exhibits similar phenotypes because mutations in either subunit alter TFP complex expression and subunit turnover

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

The deficiency of PIP2 5-phosphatase in Lowe syndrome affects actin polymerization

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Saposin C mutations in Gaucher disease patients resulting in lysosomal lipid accumulation, saposin C deficiency, but normal prosaposin processing and sorting

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Fibroblast studies documenting a case of peroxisomal 2-methylacyl-CoA racemase deficiency: possible link between racemase deficiency and malabsorption and vitamin K deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Niemann-Pick disease type C

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

21 January 2018

Niemann-Pick diseases

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Phytanic acid metabolism in health and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Defects of cholesterol biosynthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Genetics and molecular basis of human peroxisome biogenesis disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

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%2FS10545-014-9776-6

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

The ABCR Gene in Recessive and Dominant Stargardt Diseases: A Genetic Pathway in Macular Degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9776-6

Long-chain 3-hydroxyacylCoA dehydrogenase deficiency: a new case presenting with liver dysfunction, cholestasis and fibrosis

21 January 2018

1 reference

12 December 2020

An adult onset case of alpha-methyl-acyl-CoA racemase deficiency

1 reference

12 December 2020

Generalized CNS disease and massive GM1-ganglioside accumulation in mice defective in lysosomal acid beta-galactosidase

1 reference

12 December 2020

Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway

1 reference

12 December 2020

Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms

1 reference

12 December 2020

Early infantile cardiomyopathy and liver disease: a multisystemic disorder caused by congenital lipodystrophy

1 reference

12 December 2020

Heritable disorders in the metabolism of the dolichols: A bridge from sterol biosynthesis to molecular glycosylation

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

Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA).

1 reference

12 December 2020

Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-Methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and leigh-Like Syndrome) caused by novel mutations in SERAC1

1 reference

12 December 2020

Early-onset severe hereditary sensory and autonomic neuropathy type 1 with S331F SPTLC1 mutation.

1 reference

12 December 2020

Phenotype in retinol deficiency due to a hereditary defect in retinol binding protein synthesis

1 reference

12 December 2020

10.1007/S10545-014-9776-6

Identifiers

DOI

1 reference

Dimensions Publication ID

1 September 2017

0 references

1 reference