Results 81 to 90 of about 29,741 (152)

X-linked adrenoleukodystrophy phenotype is independent of ABCD2 genotype

, 2020
Strikingly variable clinical phenotypes can be found in X-linked adrenoleukodystrophy (X-ALD) even with the same ABCD1 mutation. ABCD2 is the closest homolog to ABCD1. Since ABCD2 overexpression complements the loss of ABCD1 in vivo and in vitro, we have
Mayerhofer, PU, Maier, EM, Aubourg, P, Roscher, AA, Muntau, AC, Asheuer, M, Kohler, W, Berger, J, Rothe, M, Holzinger, A   +9 more
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Adrenoleukodystrophy in a Nigerian boy: A case report and review of literature

Nigerian Journal of Paediatrics, 2021
Adrenoleukodystrophy (ALD) is a hereditary, X-linked metabolic disorder with autosomal recessive traits. It arises from mutation in ABCD1 gene on chromosome Xq28.
Akowundu Pauline Karachi, Opoola Zainab Aramide, Ibrahim Usman Olaitan, Lesi Foluso Afolab   +3 more
doaj  

Two novel missense mutations causing adrenoleukodystrophy in Italian patients

, 1999
The authors present two new missense mutations in exon 1 of the adrenoleukodystrophy (ALD) gene. The first, a C813T transition, results in the substitution Pro143 Ser in the third putative transmembrane domain of the adrenoleukodystrophy protein (ALDP ...
Perusi C, Cappa M, Vigliani Mc, RIZZUTO, Nicolo', PIGNATTI, Pierfranco, SALVIATI, Alessandro, MOTTES, Monica, Bertini E, Schiffer , D, GOMEZ, Maria Macarena   +9 more
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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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From gene to therapy: a review of deciphering the role of ABCD1 in combating X-Linked adrenoleukodystrophy

Lipids in Health and Disease
X-linked adrenoleukodystrophy (X-ALD) is a severe genetic disorder caused by ABCD1 mutations, resulting in the buildup of very-long-chain fatty acids, leading to significant neurological decline and adrenal insufficiency.
Xinxin Zuo, Zeyu Chen
doaj   +1 more source

ALD of TaCxNy for gate metal applications.

, 2009
2
이시우
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X-linked adrenoleukodystrophy in a 6-year-old boy initially presenting with psychiatric symptoms

The Turkish Journal of Pediatrics, 2014
X-linked adrenoleukodystrophy (ALD) leads to demyelination of the nervous system, adrenal insufficiency and accumulation of long-chain fatty acids. Most young patients with X-linked ALD develop seizures and progressive neurologic deficits, and die
Faruk İncecik, M Özlem Hergüner, Gülen Mert, Neslihan Önenli-Mungan, Serdar Ceylaner, Deniz Kör, Şakir Altunbaşak   +6 more
doaj  

Lipotoxicity in adrenoleukodystrophy: Size matters! [PDF]

, 2018
X-linked adrenoleukodystrophy (ALD) is the most common leukodystrophy with a birth incidence of 1:14,700. ALD is characterized by impaired beta-oxidation and enhanced elongation of very long-chain fatty acids (VLCFA) due to a defect in the peroxisomal ...
van de Beek, M.-C., van de Beek, Malu-Clair   +1 more
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Structure and location of the murine adrenoleukodystrophy gene

, 1996
X-linked adrenoleukodystrophy (ALD) is a degenerative neurological disease characterized by the accumulation of very long chain fatty acids in various tissues and demyelination of the central nervous system.
Fifield, Wendy J., Morris, Christine M., Dodd, Andrew, Rowland, Shelley A., Miller, Allison L., Love, Donald R., Kennedy, Martin A., Neville, Louise A.   +7 more
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Atomi rétegleválasztás (ALD) módszerrel készített vékonyrétegek analízise

, 2014
Munkám során az MTA Atommagkutató Intézetben a 2013-as év végén üzembe helyezett Beneq TFS-200 típusú atomi rétegleválasztó berendezés (ALD) működési paramétereinek optimalizálásával, Al2O3 vékonyrétegek előállításával és az elkészült minták ...
Szabó, Éva
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