Results 41 to 50 of about 29,741 (152)

In vitro effect of N-acetyl-L-cysteine on glutathione and sulfhydryl levels in X-linked adrenoleukodystrophy patients

Clinical and Biomedical Research, 2017
Introduction: Recent evidence shows that oxidative stress seems to be related with the pathophysiology of X-linked adrenoleukodystrophy (X-ALD), a neurodegenerative disorder. Methods: In the present study, the in vitro effect of N-acetyl-L-cysteine (NAC)
Desirèe Padilha Marchetti, Bruna Donida, Marion Deon, Carlos Eduardo Jacques, Laura Bannach Jardim, Carmen Regla Vargas   +5 more
doaj   +2 more sources

Generation of an induced pluripotent stem cell (iPSC) line from a 42-year-old adult cerebral type X-linked adrenoleukodystrophy (X-ALD) patient [PDF]

, 2019
X-linked Adrenoleukodystrophy (X-ALD) is a neuro-metabolic disorder that is caused by malfunction of a peroxisomal transporter protein, adenosine ATP-binding cassette transporter superfamily D member 1 (ABCD1).
Gyu-Bum Yeon, Seung-Min Oh, Hun Lim, Daryeon Son, Dae-Sung Kim, Phil Jun Kang, Hoon-Chul Kang, Seungkwon You   +7 more
core   +2 more sources

A case of female adrenoleukodystrophy carrier with insidious neurogenic bladder

Journal of General and Family Medicine, 2020
A 65‐year‐old woman with mutation of the ABCD1 gene for adrenoleukodystrophy (ALD) was admitted to our hospital with a urinary tract infection. Abdominal computed tomography showed dilation of the urinary tract.
Koji Obara, Erika Abe, Nobuyuki Shimozawa, Itaru Toyoshima   +3 more
doaj   +1 more source

Visual Pigment Gene Changes in Adrenoleukodystrophy [PDF]

, 2020
Purpose. The gene for X-linked adrenoleukodystrophy, a neurodegenerative disorder, is closely linked to the red/green color pigment genes on the distal X-chromosome Xq28 and one kindred is known to have a genetic change affecting both loci.
/ R, George H Sack, M Kelly, William M Crifjin, Mr Daniel, James C Morrell   +5 more
core  

Generation and characterization of induced pluripotent stem cell lines derived from skin fibroblasts of patients with adrenoleukodystrophy

Stem Cell Research, 2023
X-linked adrenoleukodystrophy (ALD) is a rare peroxisome disease with phenotypic heterogeneity. There is a lack of suitable in vitro models to study its pathogenesis.
Qiu-Hong Wang, Li-Ying Liu, Yang-Yang Wang, Wen He, Jia Wang, Jing Wang, Li-Ping Zou   +6 more
doaj   +1 more source

Genetic Etiologies of Dystonia with Anarthria/Aphonia

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Dystonia with anarthria and/or aphonia (DAnAp) represents a distinctive phenotype manifesting across lifespan. Frequently associated with genetic disorders, early recognition is critical for diagnosis and management. Objectives To provide practical recommendations for the clinical evaluation of patients with DAnAp, enhancing ...
Anika Ménétrey, Eriberto Rayco, Maziar Emamikhah Abarghouei, Susan H. Fox, Anthony E. Lang, George M. Ibrahim, Carolina Gorodetsky, Christos Ganos   +7 more
wiley   +1 more source

Retinal neurovascular alterations are associated with optic radiation microstructure in adrenomyeloneuropathy: A susceptibility separation MRI study

VIEW, EarlyView.
In a cross‐sectional cohort of 104 participants, 7 T susceptibility separation MRI and diffusion imaging were combined with retinal imaging and visual evoked potentials to characterize visual pathway involvement in adrenomyeloneuropathy (AMN). Absolute diamagnetic susceptibility, a myelin‐associated measure, and fractional anisotropy (FA) showed ...
Ronghao Li, Jun Li, Chongyi Li, Xingang Wang, Wenyu Zhou, Yangcheng Zou, Zhiming Zhen, Li Xiao, Na Liang, Zongxing Zou, Junru Yang, Hui Yang, Chunhua Fu, Weiqi Chen, Yuyu Chen, Chen Liu, Hongjiang Wei, Liang Tan   +17 more
wiley   +1 more source

Adrenoleukodystrophy

, 1989
The biochemical and clinical efficacy of dietary erucic acid (C22:1) therapy for X-l inked adrenoleukodystrophy (ALD) was investigated at the Departments of Pediatrics, Human Genetics, Neurology, Medical College of Virginia, Virginia Commonwealth ...
J Gordon Millichap
core   +1 more source

Advanced Diagnostic System and Introduction of Newborn Screening of Adrenoleukodystrophy and Peroxisomal Disorders in Japan

International Journal of Neonatal Screening, 2021
We established a diagnostic system for adrenoleukodystrophy (ALD) and peroxisomal disorders (PD) over 35 years ago in Japan, and have diagnosed 237 families with ALD and more than 100 cases of PD other than ALD using biochemical and molecular analyses ...
Nobuyuki Shimozawa, Shigeo Takashima, Hiroki Kawai, Kazuo Kubota, Hideo Sasai, Kenji Orii, Megumi Ogawa, Hidenori Ohnishi   +7 more
doaj   +1 more source

Prospective Study of Targeted Busulfan–Fludarabine Conditioning for Hematopoietic Stem Cell Transplantation in Genetic Rare Diseases

European Journal of Haematology, Volume 117, Issue 5, Page 1369-1377, November 2026.
ABSTRACT Objectives Genetic rare diseases (GRDs), including chronic granulomatous disease, familial hemophagocytic lymphohistiocytosis, and congenital neutropenia, often require hematopoietic stem cell transplantation (HSCT) as the only curative option.
Bo Kyung Kim, Kyung Taek Hong, Jung Yoon Choi, Hyun Jin Park, Kyung‐Sang Yu, In‐Jin Jang, Hyoung Jin Kang   +6 more
wiley   +1 more source