Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7).
about
Cellular oxygen sensing: Crystal structure of hypoxia-inducible factor prolyl hydroxylase (PHD2)Brain Lipotoxicity of Phytanic Acid and Very Long-chain Fatty Acids. Harmful Cellular/Mitochondrial Activities in Refsum Disease and X-Linked AdrenoleukodystrophyAtaxia.Structure of human phytanoyl-CoA 2-hydroxylase identifies molecular mechanisms of Refsum diseaseAutosomal recessive cerebellar ataxias.Past, present and future therapeutics for cerebellar ataxias.Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern IrelandPEX7 Mutations Cause Congenital Cataract Retinopathy and Late-Onset Ataxia and Cognitive Impairment: Report of Two Siblings and Review of the LiteratureRefsum Disease Presenting with a Late-Onset LeukodystrophyNovel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome SequencingRole of molecular testing in the multidisciplinary diagnostic approach of ichthyosis.Ataxia with loss of Purkinje cells in a mouse model for Refsum disease.PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies.Peroxisomal Disorders: A Review on Cerebellar Pathologies.Current concepts in the treatment of hereditary ataxias.[Genetics of neuropathies].A child with night blindness: preventing serious symptoms of Refsum disease.Disorders of Keratinization
P2860
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P2860
Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7).
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
2004年论文
@zh
2004年论文
@zh-cn
name
Molecular basis of Refsum dise ...... and the PTS2 receptor (PEX7).
@ast
Molecular basis of Refsum dise ...... and the PTS2 receptor (PEX7).
@en
type
label
Molecular basis of Refsum dise ...... and the PTS2 receptor (PEX7).
@ast
Molecular basis of Refsum dise ...... and the PTS2 receptor (PEX7).
@en
prefLabel
Molecular basis of Refsum dise ...... and the PTS2 receptor (PEX7).
@ast
Molecular basis of Refsum dise ...... and the PTS2 receptor (PEX7).
@en
P2860
P356
P1433
P1476
Molecular basis of Refsum dise ...... and the PTS2 receptor (PEX7).
@en
P2093
Gerbert A Jansen
Hans R Waterham
P2860
P304
P356
10.1002/HUMU.10315
P577
2004-03-01T00:00:00Z