Rapid induction of cerebral organoids from human induced pluripotent stem cells using a chemically defined hydrogel and defined cell culture medium
BA Lindborg, JH Brekke, AL Vegoe… - Stem cells …, 2016 - academic.oup.com
Tissue organoids are a promising technology that may accelerate development of the
societal and NIH mandate for precision medicine. Here we describe a robust and simple …
societal and NIH mandate for precision medicine. Here we describe a robust and simple …
Newborn screening for X-linked adrenoleukodystrophy in New York State: diagnostic protocol, surveillance protocol and treatment guidelines
BH Vogel, SE Bradley, DJ Adams, K D'Aco… - Molecular genetics and …, 2015 - Elsevier
Purpose To describe a diagnostic protocol, surveillance and treatment guidelines, genetic
counseling considerations and long-term follow-up data elements developed in preparation …
counseling considerations and long-term follow-up data elements developed in preparation …
[HTML][HTML] Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation
AR Kemper, J Brosco, AM Comeau, NS Green… - Genetics in …, 2017 - nature.com
The secretary of the US Department of Health and Human Services in February 2016
recommended that X-linked adrenoleukodystrophy (X-ALD) be added to the recommended …
recommended that X-linked adrenoleukodystrophy (X-ALD) be added to the recommended …
Long-term outcomes of allogeneic haematopoietic stem cell transplantation for adult cerebral X-linked adrenoleukodystrophy
JS Kühl, F Suarez, GT Gillett, PG Hemmati… - Brain, 2017 - academic.oup.com
The adult cerebral inflammatory form of X-linked adrenoleukodystrophy is a rapidly
progressive neurodegenerative disease, as devastating as childhood cerebral …
progressive neurodegenerative disease, as devastating as childhood cerebral …
Neurocognitive trajectory of boys who received a hematopoietic stem cell transplant at an early stage of childhood cerebral adrenoleukodystrophy
EI Pierpont, JB Eisengart, R Shanley… - JAMA …, 2017 - jamanetwork.com
Importance Untreated childhood cerebral adrenoleukodystrophy (cALD) is a fatal disease
associated with progressive cerebral demyelination and rapid, devastating neurologic …
associated with progressive cerebral demyelination and rapid, devastating neurologic …
Congenital genetic inborn errors of metabolism presenting as an adult or persisting into adulthood: neuroimaging in the more common or recognizable disorders
SH Krishna, AM McKinney, LT Lucato - Seminars in Ultrasound, CT and …, 2014 - Elsevier
Numerous congenital-genetic inborn errors of metabolism (CIEMs) have been identified and
characterized in detail within recent decades, with promising therapeutic options …
characterized in detail within recent decades, with promising therapeutic options …
Diffusion tensor imaging: A biomarker of outcome in K rabbe's disease
Krabbe's disease is a rare autosomal recessive lysosomal disorder resulting from deficiency
of β‐galactocerebrosidase that affects primarily cerebral white matter and peripheral nerves …
of β‐galactocerebrosidase that affects primarily cerebral white matter and peripheral nerves …
[HTML][HTML] The role of MR imaging in the assessment of clinical outcomes in children with X-linked adrenoleukodystrophy after allogeneic haematopoietic stem cell …
J Bladowska, D Kulej, A Biel, A Zimny… - Polish journal of …, 2015 - ncbi.nlm.nih.gov
Background The aim of the study was to analyse MR images of the brain, including
advanced MR techniques, such as single voxel spectroscopy (MRS) and diffusion tensor …
advanced MR techniques, such as single voxel spectroscopy (MRS) and diffusion tensor …
[BOOK][B] X-linked Adrenoleukodystrophy
D Trompier, S Savary - 2013 - books.google.com
X-linked adrenoleukodystrophy (X-ALD) is the most common leukodystrophy and the most
frequent peroxisomal disorder, with an estimated incidence of 1: 17,000. This complex …
frequent peroxisomal disorder, with an estimated incidence of 1: 17,000. This complex …
[HTML][HTML] Adrenal insufficiency due to X-linked adrenoleukodystrophy
ABSTRACT X-linked adrenoleukodystrophy (X-ALD) is an inherited neurodegenerative
disorder, involving mainly the white matter and axons of the central nervous system, the …
disorder, involving mainly the white matter and axons of the central nervous system, the …
