Klinische Langzeitergebnisse der allogenen hämatopoetischen Stammzelltransplantation bei adulten zerebralen Verlaufsformen der X-chromosomalen …

W Köhler - 2020 - ul.qucosa.de
Abstract (DE) Die X-chromosomale vererbte Adrenoleukodystrophie gehört zu den
häufigsten monogenetischen, neurodegenerativen Erkrankungen im Kindes-, und …

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 …

[HTML][HTML] ABCD1 gene mutation in an Italian family with X-linkedadrenoleukodystrophy: case series

A Mohn, N Polidori, C Aiello, C Rizzo… - … & metabolism case …, 2021 - edm.bioscientifica.com
Adrenoleukodystrophy is a peroxisomal X-linked recessive disease caused by mutations in
the ABCD1 gene, located on the X-chromosome (Xq28). Gene mutations in patient with …

No evidence for the reversal of adrenal failure after hematopoietic cell transplantation in X-linked adrenoleukodystrophy

A Petryk, LE Polgreen, S Chahla, W Miller… - Bone marrow …, 2012 - nature.com
X-linked adrenoleukodystrophy (ALD) is a peroxisomal disorder characterized by
accumulation of saturated very long-chain fatty acids (VLCFA) primarily in the adrenal …

Cerebral X-Linked Adrenoleukodystrophy: The University of Minnesota Hematopoietic Cell Transplantation Experience from 1991 to 2004.

C Peters, LR Charnas, T DeFor, EG Shapiro… - Blood, 2004 - Elsevier
Hematopoietic cell transplantation (HCT) is the only effective long-term treatment for
cerebral X-linked adrenoleukodystrophy (X-ALD), a beta-oxidation disorder of very-long …

Childhood cerebral X-linked adrenoleukodystrophy more than 5 years after hematopoietic cell transplantation: the first case from Serbia and southeastern Europe

A Potic, AM Rovelli, G Uziel, D Kozic… - Journal of child …, 2010 - journals.sagepub.com
We report the clinical course, brain magnetic resonance imaging (MRI), and proton magnetic
resonance spectroscopy findings in a boy with childhood cerebral X-linked …

Survival analysis of haematopoietic cell transplantation for childhood cerebral X-linked adrenoleukodystrophy: a comparison study

A Mahmood, GV Raymond, P Dubey, C Peters… - The Lancet …, 2007 - thelancet.com
Background Favourable outcomes have been reported for patients with childhood cerebral
adrenoleukodystrophy (CCALD) who had received haematopoietic cell transplantation …

Haematopoietic stem cell transplantation in 12 patients with cerebral X-linked adrenoleukodystrophy

M Baumann, CG Korenke, A Weddige-Diedrichs… - European journal of …, 2003 - Springer
In an attempt to elucidate prognostic factors, the data on 12 boys who underwent
haematopoietic stem cell transplantation (HSCT) for cerebral X-linked …

Allogeneic hematopoietic stem cell transplantation with myeloablative conditioning for adult cerebral X‐linked adrenoleukodystrophy

N Waldhüter, W Köhler, PG Hemmati… - Journal of Inherited …, 2019 - Wiley Online Library
The adult cerebral form of X‐linked adrenoleukodystrophy (ACALD), an acute inflammatory
demyelinating disease, results in a rapidly progressive neurodegeneration, typically leading …

X-linked adrenoleukodystrophy diagnosed in three brothers

M Hetman, M Jura, K Krakowska, E Barg - … Endocrinology Diabetes and …, 2019 - termedia.pl
Adrenoleukodystrophy is a genetic diseases classified in the group of peroxisomal disorders
caused by mutations in ABCD1, gene located on the X chromosome (Xq28). It demonstrates …