Results 51 to 60 of about 7,234,150 (180)

Newborn Screening for X-Linked Adrenoleukodystrophy: Past, Present, and Future

International Journal of Neonatal Screening, 2022
Newborn screening for X-linked adrenoleukodystrophy began in New York in 2013. Prior to this start, there was already significant information on the diagnosis and monitoring of asymptomatic individuals.
Ann B. Moser, Elisa Seeger, Gerald V. Raymond   +2 more
doaj   +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

Asymmetric Cerebral Lesion Pattern in X-linked Adrenoleukodystrophy [PDF]

, 2006
X-linked adrenoleukodystrophy (X-ALD) is an inherited disease caused by peroxisomal dysfunction. X-ALD usually involves the cerebral white matter in an approximately symmetric way. We report a 10-year-old boy with the cerebral form of X-ALD who presented
Wang, Shuang, Wu, Ji-Min, Cheng, Yuan-Shen   +2 more
core   +1 more source

Red lines and green lights: Gene therapy for inherited erythroid disorders beyond the haemoglobinopathies

British Journal of Haematology, EarlyView.
Gene therapy is revolutionizing treatment paradigms for haemoglobinopathies, establishing a translational framework for disorders that impact red blood cell development. In their paper, Joshi et al. describe the preclinical and early clinical landscape of gene therapies for non‐haemoglobinopathy erythroid disorders and highlight common thematic ...
Gaurav Joshi, Nandakumar Natarajan, Kathryn E. Dickerson, Richard A. Voit   +3 more
wiley   +1 more source

Late adult-onset adrenomyeloneuropathy evolving with atypical severe frontal lobe syndrome: Importance of neuroimaging

Radiology Case Reports, 2019
X-linked adrenoleukodystrophy (X-ALD) is a rare inherited metabolic disease affecting the nervous system and the adrenal glands. It is caused by a mutation of the ABCD1 gene, resulting in the impaired degradation of very long-chain fatty acids and their ...
Clemente Dato, MD, Guglielmo Capaldo, MD, Chiara Terracciano, MD, PhD, Filomena Napolitano, MSc, PhD, Alessandra D'Amico, MD, Sabina Pappatà, MD, Filippo Maria Santorelli, MD, PhD, Giuseppe Di Iorio, MD, Simone Sampaolo, MD, PhD, Mariarosa AB Melone, MD   +9 more
doaj   +1 more source

CD1 gene polymorphisms and phenotypic variability in X-linked adrenoleukodystrophy. [PDF]

PLoS ONE, 2012
X-linked adrenoleukodystrophy (X-ALD) is characterized by marked phenotypic variation ranging from adrenomyeloneuropathy (AMN) to childhood cerebral ALD (CCALD).
Mathieu Barbier, Audrey Sabbagh, Edwige Kasper, Muriel Asheuer, Ornella Ahouansou, Ingrid Pribill, Sonja Forss-Petter, Michel Vidaud, Johannes Berger, Patrick Aubourg   +9 more
doaj   +1 more source

Role of MRI in X-linked adrenoleukodystrophy—A case report

Radiology Case Reports, 2022
X-linked adrenoleukodystrophy is a rare inherited peroxisomal disorder that occurs due to a genetic mutation. This mutation impairs normal transport of very long-chain fatty acids (VLCFAs) into peroxisomes, hence impeding VLCFA breakdown leading to its ...
Sajiva Aryal, MBBS, Suraj Sharma, MBBS, MD, Saroj Poudel, MBBS, Sunita Sharma, MPH   +3 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, EarlyView.
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

A novel temporal pattern of childhood cerebral X-linked adrenoleukodystrophy

, 2018
We report a 9-year-old boy, with childhood cerebral X-linked adrenoleukodystrophy (CCALD), presenting with an episode of loss of consciousness, fixed gaze, hypotonia and vomit with spontaneous resolution and post-ictal sleep.
Barsacchi, Marina, Anna Andreolli, Ormitti, Francesca, Pisani, Francesco, Carlotta Facini, Francesco Pisani, Emanuela C. Turco, Francesca Ormitti, Facini, Carlotta, Andreolli, Anna, Turco, Emanuela C., Marina Barsacchi   +11 more
core   +1 more source

Visual loss as first clinical manifestation of X-linked adrenoleukodystrophy [PDF]

Revista Brasileira de Oftalmologia, 2019
X-linked adrenoleukodystrophy (X-ALD) represents a group of diseases characterized by the accumulation of very long chain fattyacids (VLCFAs) in the tissues. Its clinical manifestations are usually manifold.
Maria Angélica Tosi Ferreira, João Francisco de Oliveira Gonzales, Elisa Pacheco Estima Correia, Rosana Cardoso Manique Rosa, Paulo Ricardo Gazzola Zen, Rafael Fabiano Machado Rosa   +5 more
doaj   +1 more source