Results 81 to 90 of about 1,386 (146)

A novel mutation in the ABCD1 gene of a Moroccan patient with X-linked adrenoleukodystrophy: case report [PDF]

, 2015
International audienceAbstractBackgroundX-linked adrenoleukodystrophy (X-ALD; OMIM: 300100) is the most common peroxisomal disease caused by mutations in the ATP-binding cassette, sub-family D member 1 gene or ABCD1 (geneID: 215), the coding gene for the
Ilham Slassi, Fettah, Houda, Houda Fettah, Odile Boespflug-Tanguy, Imen Dorboz, Bakhchane, Amina, Slassi, Ilham, Nadifi, Sellama, Sellama Nadifi, Boespflug-Tanguy, Odile, Dorboz, Imen, Karkar, Adnane, Barakat, Abdelhamid, Abdelhamid Barakat, Adnane Karkar, Amina Bakhchane   +15 more
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X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy [PDF]

, 1997
X linked adrenoleukodystrophy (X-ALD) is an inherited disorder of peroxisomal metabolism, biochemically characterised by accumulation of saturated very long chain fatty acids.
B M Van Geel, Barth, P.G., Barth, P. G., J M ; Assies, P G Barth, Assies, J., van Geel, B. M., van Geel, B.M., Wanders, R.J.A., Wanders, R. J., R J A Wanders   +10 more
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Disease progression in women with X-linked adrenoleukodystrophy is slow

Orphanet Journal of Rare Diseases, 2019
Background Over 80% of women with X-linked adrenoleukodystrophy (ALD) develop spinal cord disease in adulthood for which treatment is supportive only. For future clinical trials quantitative data on disease progression rates are essential.
Irene C. Huffnagel, Marcel G. W. Dijkgraaf, Georges E. Janssens, Michel van Weeghel, Björn M. van Geel, Bwee Tien Poll-The, Stephan Kemp, Marc Engelen   +7 more
doaj   +1 more source

Fulminant Adrenal Crisis as the Initial Healthcare System Presentation of Adolescent Cerebral X‐Linked Adrenoleukodystrophy

CNS Neuroscience &Therapeutics, Volume 32, Issue 4, April 2026.
Junqiu Zhou, Wei Meng, Wei Zhao, Chenguang Shen   +3 more
wiley   +1 more source

Progress report on the cost-effectiveness of X-linked adrenoleukodystrophy newborn screening [PDF]

, 2017
This research was supported by the Undergraduate Research Opportunities Program (UROP).Parikh, Aditya; Miller, Weston. (2017). Progress report on the cost-effectiveness of X-linked adrenoleukodystrophy newborn screening.
Miller, Weston, Parikh, Aditya
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Lorenzo’s Oil in Treatment of Asymptomatic ALD

Pediatric Neurology Briefs, 2005
The effect of 4:1 glyceryl trioleate-glyceryl trierucate (Lorenzo’s oil) on disease progression in 89 asymptomatic boys (mean age 4.7+/-4.1 years; range 0.2-15 years) with X-linked adrenoleukodystrophy (ALD) and normal brain MRI was studied at Johns ...
J Gordon Millichap
doaj   +1 more source

Prenatal diagnosis of X‐linked adrenoleukodystrophy associated with isolated pericardial effusion [PDF]

, 2015
This is the first reported case of fetal pericardial effusion in association with X-linked adrenoleukodystrophy and hypocortisolism from a nonautoimmune cause.
Di Tommaso, Mariarosaria, Giglio, Sabrina Rita, Biagiotti, R, Cariati, E, Aldesia Provenzano, Sabrina Giglio, Mariarosaria Di Tommaso, Roberto Biagiotti, Traficante, G, Giovanna Traficante, Ettore Cariati, Provenzano, Aldesia, Elena Andreucci, Andreucci, E   +13 more
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Clinical, biochemical and genetic profiling of X-linked adrenoleukodystrophy in Egyptian pediatric patients: a hospital-based study

Egyptian Journal of Medical Human Genetics
Background X-linked adrenoleukodystrophy, the most common peroxisomal disorder, is caused by ABCD1 gene mutations. This genetic disorder is characterized by the defective degradation of very long-chain fatty acids.
Dina A. Mehaney, Laila A. Selim, Dina A. Ezzat, Mohamed Shehata, Zeinab S. Seleim, Abeer Atef El-Ashmawy, Cristiano Rizzo, Carlo Dioniasi-Vici, Doaa M. Abdou, Sarah EL-Sayegh   +9 more
doaj   +1 more source

Central precocious puberty in a boy with X-linked adrenoleukodystrophy caused by a novel ABCD1 mutation

Heliyon
X-linked adrenoleukodystrophy (X-ALD) is a rare genetic disorder caused by pathogenic variants in the ABCD1 gene. The symptoms include primary adrenal insufficiency (PAI), progressive spinal cord disease, inflammatory demyelinating cerebral disease, and ...
Chaoyue Zhao, Hanhong Zhu, Jie Wang, Wenlong Liu, Yongzhen Xue, Yanyan Hu   +5 more
doaj   +1 more source

X-linked adrenoleukodystrophy; Recent Advances in Classification, Diagnosis and Management

, 2017
X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ATP binding cassette subfamily D member 1 (ABCD1), a gene that encodes peroxisomal membrane located on ABC half-transporter named adrenoleukodystrophy protein (ALDP).
고아라, 정을식, 강훈철
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