搜索页_Adrenoleukodystrophy

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在“Elsevier电子期刊”中，命中：300条，耗时：小于0.01 秒

在所有数据库中总计命中：489条

1.Synthetic cannabinoids revealing adrenoleukodystrophy

作者：Avi Fellner ; ^{avi.fellner@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Felix Benninger ; Ruth Djaldetti

关键词：Adrenoleukodystrophy ; Cannabinoids ; Leukodystrophies ; MRI ; Seizures

刊名：Journal of Clinical Neuroscience

出版年：2016

2.A selective detection of lysophosphatidylcholine in dried blood spots for diagnosis of adrenoleukodystrophy by LC-MS/MS

作者：Ryuichi Mashima^a ; ^{mashima-r@ncchd.go.jp" class="auth_mail" title="E-mail the corresponding author} ; Misa Tanaka^a ; Eri Sakai^a ; Hidenori Nakajima^b ; Tadayuki Kumagai^a ; Motomichi Kosuga^c ; ^{kosuga-mo@ncchd.go.jp" class="auth_mail" title="E-mail the corresponding author} ; Torayuki Okuyama^a

关键词：Adrenoleukodystrophy ; LC-MS/MS ; DBS

刊名：Molecular Genetics and Metabolism Reports

出版年：2016

3.Phenotypic variability in a Tunisian family with X-linked adrenoleukodystrophy caused by the p.Gln316Pro novel mutation

作者：Fakhri Kallabi^a ; ^{fakhrikallabi@yahoo.fr" class="auth_mail" title="E-mail the corresponding author} ; Emna Ellouz^b ; Mouna Tabebi^a ; Ghada Ben Salah^c ; Naziha Kaabechi^d ; Leila Keskes^a ; Chahnez Triki^b ; Hassen Kamoun^a ; ^e ; ^{hassen.kamoun@yahoo.fr" class="auth_mail" title="E-mail the corresponding author}

关键词：ABCD1 gene ; Addison disease ; Childhood cerebral ALD ; Novel mutation ; Phenotypic variability ; VLCFA ; X-linked adrenoleukodystrophy

刊名：Clinica Chimica Acta

出版年：2016

4.CYP4F2 affects phenotypic outcome in adrenoleukodystrophy by modulating the clearance of very long-chain fatty acids

作者：Catherine E. van Engen^a ; Rob Ofman^a ; Inge M.E. Dijkstra^a ; Tessa Jacobs van Goethem^a ; Eveline Verheij^a ; Jennifer Varin^b ; Michel Vidaud^b ; Ronald J.A. Wanders^a ; Patrick Aubourg^c ; ^d ; ¹ ; Stephan Kemp^a ; ¹ ; ^{s.kemp@amc.uva.nl" class="auth_mail" title="E-mail the corresponding author} ; Mathieu Barbier^c ; ¹ ; ²

关键词：Adrenoleukodystrophy ; Modifier gene ; Dicarboxylic acids ; Cytochrome P450 ; Omega-oxidation ; Peroxisomes

刊名：Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

出版年：2016

5.Generation of human embryonic stem cells from abnormal blastocyst diagnosed with adrenoleukodystrophy

作者：Qi Ouyang^a ; ^b ; ^c ; Xiaoying Zhou^b ; Jing Chen^a ; Juan Du^a ; ^c ; ^d ; Guangxiu Lu^b ; ^c ; ^d ; Ge Lin^a ; ^b ; ^c ; ^d ; Yi Sun^a ; ^b ; ^c ; ^{sunyi66@csu.edu.cn}

刊名：Stem Cell Research

出版年：2016

6.Simultaneous quantitation of hexacosanoyl lysophosphatidylcholine, amino acids, acylcarnitines, and succinylacetone during FIA-ESI-MS/MS analysis of dried blood spot extracts for newborn screening

作者：Christopher A. Haynes ; ^{cph7@cdc.gov" class="auth_mail" title="E-mail the corresponding author} ; Ví ; ctor R. De Jesús

关键词：Flow-injection analysis ; Tandem mass spectrometry ; Newborn screening ; Dried blood spot ; X-linked adrenoleukodystrophy

刊名：Clinical Biochemistry

出版年：2016

7.Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines

关键词：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 spectrometry ; NALD ; neonatal adrenoleukodystrophy ; OCT ; optical coherence tomography ; PBD ; peroxisome biogenesis disorder ; PBD-ZSD ; peroxisome biogenesis disorder-Zellweger spectrum disorder ; THCA ; trihydroxycholestanoic acid ; VLCFA ; very long chain fatty

刊名：Molecular Genetics and Metabolism

出版年：2016

8.Simultaneous quantitation of hexacosanoyl lysophosphatidylcholine, amino acids, acylcarnitines, and succinylacetone during FIA-ESI-MS/MS analysis of dried blood spot extracts for newborn screening

作者：Christopher A. Haynes ; ^{cph7@cdc.gov" class="auth_mail" title="E-mail the corresponding author} ; Ví ; ctor R. De Jesús

关键词：Flow-injection analysis ; Tandem mass spectrometry ; Newborn screening ; Dried blood spot ; X-linked adrenoleukodystrophy

刊名：Clinical Biochemistry

出版年：2016

9.Peroxisomes in brain development and function

作者：Johannes Berger ; ^{johannes.berger@meduniwien.ac.at" class="auth_mail" title="E-mail the corresponding author} ; Fabian Dorninger ^{fabian.dorninger@meduniwien.ac.at" class="auth_mail" title="E-mail the corresponding author} ; Sonja Forss-Petter ^{sonja.forss-petter@meduniwien.ac.at" class="auth_mail" title="E-mail the corresponding author} ; Markus Kunze ^{markus.kunze@meduniwien.ac.at" class="auth_mail" title="E-mail the corresponding author}

关键词：Lipid metabolism ; Plasmalogen ; Zellweger spectrum disorder ; D-bifunctional protein deficiency ; X-linked adrenoleukodystrophy ; Rhizomelic chondrodysplasia punctata

刊名：Biochimica et Biophysica Acta (BBA)-Molecular Cell Research

出版年：2016

10.Extensive Asymmetric Pattern in Cerebral X-Linked Adrenoleukodystrophy

作者：Juliana Silva de Almeida Magalhã ; es ; MD ; ^{jsamagalhaes@yahoo.com.br" class="auth_mail" title="E-mail the corresponding author} ; Ellen de Souza Siqueira ; MD ^{ellensiqueira_17@yahoo.com.br" class="auth_mail" title="E-mail the corresponding author} ; Marcelo Rodrigues Masruha ; MD ; PhD

刊名：Pediatric Neurology

出版年：2016

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