Potential Risks to Stable Long-term Outcome of Allogeneic Hematopoietic Stem Cell Transplantation for Children With Cerebral X-linked Adrenoleukodystrophy
Sign Up to like & getrecommendations! Published in 2018 at "JAMA Cardiology"
DOI: 10.1001/jamanetworkopen.2018.0769
Abstract: Key Points Question What are the risks to stable neurocognitive outcome after allogeneic hematopoietic stem cell transplantation for childhood cerebral X-linked adrenoleukodystrophy? Findings This single-center case series involving 36 boys with cerebral X-linked adrenoleukodystrophy found… read more here.
Keywords: linked adrenoleukodystrophy; cell transplantation; cerebral linked; stem cell ... See more keywords
Microglia damage precedes major myelin breakdown in X‐linked adrenoleukodystrophy and metachromatic leukodystrophy
Sign Up to like & getrecommendations! Published in 2019 at "Glia"
DOI: 10.1002/glia.23598
Abstract: X‐linked adrenoleukodystrophy (X‐ALD) and metachromatic leukodystrophy (MLD) are two relatively common examples of hereditary demyelinating diseases caused by a dysfunction of peroxisomal or lysosomal lipid degradation. In both conditions, accumulation of nondegraded lipids leads to… read more here.
Keywords: microglia; linked adrenoleukodystrophy; metachromatic leukodystrophy; damage ... See more keywords
Drug discovery for X‐linked adrenoleukodystrophy: An unbiased screen for compounds that lower very long‐chain fatty acids
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Cellular Biochemistry"
DOI: 10.1002/jcb.30014
Abstract: X‐linked adrenoleukodystrophy (XALD) is a genetic neurologic disorder with multiple phenotypic presentations and limited therapeutic options. The childhood cerebral phenotype (CCALD), a fatal demyelinating disorder affecting about 35% of patients, and the adult‐onset adrenomyeloneuropathy (AMN),… read more here.
Keywords: c26; linked adrenoleukodystrophy; fatty acids; drug ... See more keywords
Therapeutic potential of deuterium‐stabilized (R)‐pioglitazone—PXL065—for X‐linked adrenoleukodystrophy
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12510
Abstract: X‐linked adrenoleukodystrophy (ALD) results from ABCD1 gene mutations which impair Very Long Chain Fatty Acids (VLCFA; C26:0 and C24:0) peroxisomal import and β‐oxidation, leading to accumulation in plasma and tissues. Excess VLCFA drives impaired cellular… read more here.
Keywords: pioglitazone pxl065; deuterium stabilized; linked adrenoleukodystrophy; pioglitazone ... See more keywords
Sex‐specific newborn screening for X‐linked adrenoleukodystrophy
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12571
Abstract: Males with X‐linked adrenoleukodystrophy (ALD) are at high risk for developing adrenal insufficiency and/or progressive leukodystrophy (cerebral ALD) at an early age. Pathogenic variants in ABCD1 result in elevated levels of very long‐chain fatty acids… read more here.
Keywords: specific newborn; linked adrenoleukodystrophy; c26 lpc; sex ... See more keywords
ABCD1 and X-linked adrenoleukodystrophy: A disease with a markedly variable phenotype showing conserved neurobiology in animal models.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of neuroscience research"
DOI: 10.1002/jnr.24953
Abstract: X-linked adrenoleukodystrophy (X-ALD) is a phenotypically heterogeneous disorder involving defective peroxisomal β-oxidation of very long-chain fatty acids (VLCFAs), due to mutation in the ABCD1 gene. X-ALD is the most common peroxisomal inborn error of metabolism… read more here.
Keywords: phenotype; linked adrenoleukodystrophy; animal models; disease ... See more keywords
A novel missense mutation in the ABCD1 gene of a Chinese boy diagnosed with X-linked adrenoleukodystrophy: case report
Sign Up to like & getrecommendations! Published in 2018 at "Neurological Sciences"
DOI: 10.1007/s10072-018-3596-7
Abstract: X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disease, caused by mutations in ABCD1, a gene located on the X chromosome that codes for adrenoleukodystrophy protein (ALDP) [1], which belongs to the adenosine triphosphate (ATP)… read more here.
Keywords: ald; novel missense; linked adrenoleukodystrophy; abcd1 gene ... See more keywords
Bilateral testicular masses and adrenal insufficiency: is congenital adrenal hyperplasia the only possible diagnosis? First two cases of TARTS described in Addison-only X-linked adrenoleukodystrophy and a brief review of literature
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Endocrinological Investigation"
DOI: 10.1007/s40618-020-01362-x
Abstract: Testicular adrenal rest tumors (TARTs) are benign masses deemed to originate from pluripotent testicular steroidogenic cells that grow under chronic ACTH stimulation. These lesions, occasionally misdiagnosed as Leydig cell tumors (LCTs), are typically described in… read more here.
Keywords: bilateral testicular; linked adrenoleukodystrophy; adrenal insufficiency; adrenal hyperplasia ... See more keywords
Late-diagnosed phenylketonuria mimicking x-linked adrenoleukodystrophy with heterozygous mutations of the PAH Gene: A case report and literature review
Sign Up to like & getrecommendations! Published in 2018 at "Clinical Neurology and Neurosurgery"
DOI: 10.1016/j.clineuro.2018.06.009
Abstract: Phenylketonuria (PKU) is a prevalent inherited metabolic disorder caused by a phenylalanine hydroxylase (PAH) or tetrahydrobiopterin (BH4) deficiency, which leads to the accumulation of phenylalanine (PHE). High blood levels of PHE have a toxic effect… read more here.
Keywords: mimicking linked; linked adrenoleukodystrophy; late diagnosed; case ... See more keywords
Generation of two induced pluripotent stem cell (iPSC) lines from X-linked adrenoleukodystrophy (X-ALD) patients with adrenomyeloneuropathy (AMN).
Sign Up to like & getrecommendations! Published in 2017 at "Stem cell research"
DOI: 10.1016/j.scr.2017.10.003
Abstract: X-linked adrenoleukodystrophy (X-ALD) is an inherited disorder caused by a mutation in the ATP-binding cassette transporter subfamily D member 1 (ABCD1) gene. We generated two induced pluripotent stem cell (iPSC) lines from X-ALD patients with… read more here.
Keywords: linked adrenoleukodystrophy; stem cell; two induced; ipsc lines ... See more keywords
Restless Legs Syndrome in X-linked adrenoleukodystrophy.
Sign Up to like & getrecommendations! Published in 2022 at "Sleep medicine"
DOI: 10.1016/j.sleep.2022.02.008
Abstract: OBJECTIVE/BACKGROUND X-linked adrenoleukodystrophy (ALD) is a neurodegenerative disease that causes progressive gait and balance problems. Leg discomfort, sleep disturbances, and pain contribute to daily disability. We sought to investigate the prevalence and severity of Restless… read more here.
Keywords: restless legs; legs syndrome; syndrome linked; linked adrenoleukodystrophy ... See more keywords