Keywords: Neonatal cholestasis; Cirrhosis; Liver; Zellweger spectrum disorder;
مقالات ISI (ترجمه نشده)
مقالات زیر هنوز به فارسی ترجمه نشده اند.
در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
Keywords: Peroxisomal biogenesis disorder; Zellweger spectrum disorder; PEX6; Polimicrogyria; VLCFA; PBD; peroxisomal biogenesis disorder; VLCFA; very long chain fatty acids; CGH Array; comparative genomic hybridization array; DHAPAT; dihydroxyacetonephosphate acyl
Keywords: Lipid metabolism; Plasmalogen; Zellweger spectrum disorder; D-bifunctional protein deficiency; X-linked adrenoleukodystrophy; Rhizomelic chondrodysplasia punctata;
A novel case of ACOX2 deficiency leads to recognition of a third human peroxisomal acyl-CoA oxidase
Keywords: ACOX; acyl-CoA oxidase; THCA; trihydroxycholestanoic acid; VLCFAs; very long-chain fatty acids; ZSD; Zellweger spectrum disorder; Bile acids; Branched-chain fatty acids; Peroxisomes; Acyl-CoA oxidase;
Biochemical and genetic characterization of an unusual mild PEX3-related Zellweger spectrum disorder
Keywords: ZSDs; Zellweger spectrum disorders; VLCFAs; very long-chain fatty acids; DHAPAT; dihydroxyacetonephosphate-acyltransferase; ACOX1; acyl-CoA oxidase 1; PEX3; PEX genes; Zellweger syndrome; Zellweger spectrum disorder; Peroxisomal biogenesis disorder; Crypt
Low bone mineral density is a common feature of Zellweger spectrum disorders
Keywords: Peroxisomal biogenesis disorder; Zellweger spectrum disorder; Bone mineral density; Bone densitometry; PPAR-gamma; Pathologic fracture; Bisphosphonate;
Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines
Keywords: AAV; adeno-associated virus; AED; anti-epileptic drug(s); DHA; docosahexaenoic acid; DHCA; dihydroxycholestanoic acid; ERG; electroretinogram; G-tube; gastrostomy tube; IRD; infantile Refsum disease; LC-MS/MS; liquid chromatography/tandem mass spectrometr
Disease specific therapies in leukodystrophies and leukoencephalopathies
Keywords: X-ALD; X-linked Adrenoleukodystrophy; AGS; Aicardi-Goutières Syndrome; CSF; cerebrospinal fluid; IFNα; α-interferon; RNA; ribonucleic acid; DNA; deoxyribonucleic acid; SLE; systemic lupus erythematosus; AxD; Alexander disease; GFAP; growth factor ass
Late-Onset Zellweger Spectrum Disorder Caused by PEX6 Mutations Mimicking X-Linked Adrenoleukodystrophy
Keywords: peroxisome biogenesis disorder; Zellweger spectrum disorder; X-linked adrenoleukodystrophy; PEX6 gene; late onset
Clinical diagnosis, biochemical findings and MRI spectrum of peroxisomal disorders
Keywords: Peroxisomal disorder; Zellweger spectrum disorder; Peroxisomal acyl-CoA oxidase deficiency; D-bifunctional protein deficiency; X-linked adrenoleukodystrophy; Rhizomelic chondrodysplasia punctata