Results 141 to 150 of about 29,741 (152)

Adrenoleukodystrophy: subcellular localization and degradation of adrenoleukodystrophy protein (ALDP/ABCD1) with naturally occurring missense mutations.

Journal of Neurochemistry, 2007
Ryuichiro Sato, Masashi Morita, Tsuneo Imanaka   +2 more
exaly  

Early neuropsychological signs of childhood adrenoleukodystrophy (ALD)

Brain and Development, 2009
Masumi Inagaki, Makiko Kaga
exaly  

Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes

Neurogenetics, 2010
Shoji Tsuji, Takashi Matsukawa, Osamu Onodera   +2 more
exaly  

The role of ELOVL1 in very long‐chain fatty acid homeostasis and X‐linked adrenoleukodystrophy

EMBO Molecular Medicine, 2010
Carlo W T van Roermund, Ronald Wanders, Stephan Kemp   +2 more
exaly  

Metabolism of [17, 18-3H2]hexacosanoic acid and [15,16-3H2]lignoceric acid in cultured skin fibroblasts from patients with adrenoleukodystrophy (ALD) and adrenomyeloneuropathy (AMN)

Journal of the Neurological Sciences, 1985
Shoji Tsuji, Toshio Ariga, Tadashi Miyatake   +2 more
exaly  

Adrenoleukodystrophy-related protein can compensate functionally for adrenoleukodystrophy protein deficiency (X-ALD): implications for therapy.

Human Molecular Genetics, 1999
Johannes Berger, S Forss-Petter, A Holzinger   +2 more
exaly  

Perceptions and Experiences of Families of Infants Diagnosed with X-Linked Adrenoleukodystrophy (X-ALD) via Newborn Screening in Georgia and Kentucky

Journal of Primary Care and Community Health
Aileen Kenneson, Nadia Fazal Ali
exaly  

X-Linked Adrenoleukodystrophy (ALD): A Novel Mutation of the ALD Gene in 6 Members of a Family Presenting with 5 Different Phenotypes

Biochemical and Biophysical Research Communications, 1994
Johannes Berger, H Bernheimer
exaly  

Newborn Screening for X-Linked Adrenoleukodystrophy (X-ALD): Biochemical, Molecular, and Clinical Characteristics of Other Genetic Conditions

Genes
Anne Niehaus, Gregory M Enns, Christina G Tise   +2 more
exaly  

X-linked adrenoleukodystrophy phenotype is independent of ABCD2 genotype

Biochemical and Biophysical Research Communications, 2008
Esther M Maier, Johannes Berger, Patrick Aubourg   +2 more
exaly