Results 11 to 20 of about 18,288 (188)

Natural History of Clinical Phenotypes and Their Biochemical Correlates in Adult X-Linked Adrenoleukodystrophy. [PDF]

J Inherit Metab Dis
ABSTRACT X‐linked adrenoleukodystrophy (X‐ALD) is a rare monogenic disorder characterized by marked variability in clinical presentation, age at onset, and disease progression. A deeper understanding of its natural history and the relationship between biochemical markers and clinical phenotypes is essential for improving disease monitoring, patient ...
Lier J, Ponleitner M, Popp D, Schäfer L, Küstermann F, Meigen C, Kratzer F, Janda J, Okun J, Jamra RA, Köhler W, Bergner C.   +11 more
europepmc   +2 more sources

The Grey Zone Project: Risk-Based Classification of ABCD1 Variants in X-Linked Adrenoleukodystrophy. [PDF]

J Inherit Metab Dis
ABSTRACT Newborn screening (NBS) for X‐linked adrenoleukodystrophy (ALD) enables early identification of boys at risk for adrenal insufficiency (AI) and cerebral ALD (CALD). However, NBS frequently identifies ABCD1 variants of uncertain significance (VUS), which are associated with only borderline‐elevated C26:0‐lysophosphatidylcholine (LPC(26:0 ...
Lund TC, Miettunen K, Jaspers YRJ, Bergner C, Bonkowsky JL, Bruschi F, Cohen JS, Dijkstra IME, Eichler FS, Mallack EJ, Salomons GS, Thompson R, Tonduti D, van Haren KP, Wamelink MMC, Zerem A, Engelen M, Kemp S.   +17 more
europepmc   +2 more sources

Sexual Dysfunction and Its Relationship With Hypogonadism and Myelopathy in Male Patients With X-Linked Adrenoleukodystrophy. [PDF]

J Inherit Metab Dis
ABSTRACT X‐linked adrenoleukodystrophy (ALD) is a genetic disorder with neurological and endocrine manifestations, including myelopathy and hypergonadotropic hypogonadism. Many patients experience sexual dysfunction but the underlying cause has not been clarified.
van de Stadt SIW, Wessel AMA, Langeveld M, Engelen M, Sjouke B.   +4 more
europepmc   +2 more sources

Characterization of the human omega-oxidation pathway for omega-hydroxy-very-long-chain fatty acids [PDF]

, 2008
Very-long-chain fatty acids (VLCFAs) have long been known to be degraded exclusively in peroxisomes via beta-oxidation. A defect in peroxisomal beta-oxidation results in elevated levels of VLCFAs and is associated with the most frequent inherited ...
Dacremont, Georges, Kemp, Stephan, Ofman, Rob, Sanders, Robert-Jan, Wanders, Ronald J. A.   +4 more
core   +2 more sources

Management of X-linked adrenoleukodystrophy in Morocco: actual situation

BMC Research Notes, 2017
Objectives X-linked adrenoleukodystrophy is a neurodegenerative disorder caused by mutations in the ABCD1 gene. Adrenomyeloneuropathy and childhood cerebral Adrenoleukodystrophy are the most common phenotypes. This paper focuses on a descriptive study of
F. Z. Madani Benjelloun, Y. Kriouile, D. Cheillan, H. Daoud-Tetouani, L. Chabraoui   +4 more
doaj   +1 more source

Elevated cerebral spinal fluid biomarkers in children with mucopolysaccharidosis I-H. [PDF]

, 2016
Mucopolysaccharidosis (MPS) type-IH is a lysosomal storage disease that results from mutations in the IDUA gene causing the accumulation of glycosaminoglycans (GAGs).
Dickson, Patricia I, Lund, Troy C, Miller, Weston P, Orchard, Paul J, Pasquali, Marzia, Polgreen, Lynda E, Raymond, Gerald V   +6 more
core   +1 more source

A three-year-old boy with X-linked adrenoleukodystrophy and congenital pulmonary adenomatoid malformation: a case report

Journal of Medical Case Reports, 2009
Introduction X-linked adrenoleukodystrophy leads to demyelination of the nervous system, adrenal insufficiency, and accumulation of long-chain fatty acids. Most young patients with X-linked adrenoleukodystrophy develop seizures and progressive neurologic
Cakan Nedim, Saadeh Sermin, Abdulhamid Ibrahim   +2 more
doaj   +1 more source

Novel Gene Mutation in a Korean Patient with X-Linked Adrenoleukodystrophy Presenting with Addison's Disease [PDF]

Endocrinology and Metabolism, 2020
X-linked adrenoleukodystrophy (X-ALD) occurs due to mutations in the ABCD1 gene that encodes the peroxisomal membrane protein peroxisomal transporter ATP-binding cassette sub-family D member 1 (ABCD1).
Yun Kyung Cho, Seo-Young Lee, Sang-Wook Kim   +2 more
doaj   +1 more source

Long-term outcomes of allogeneic haematopoietic stem cell transplantation for adult cerebral X-linked adrenoleukodystrophy [PDF]

, 2017
The adult cerebral inflammatory form of X-linked adrenoleukodystrophy is a rapidly progressive neurodegenerative disease, as devastating as childhood cerebral adrenoleukodystrophy. Allogeneic haematopoietic stem cell transplantation has been demonstrated
Arnold, R., Aubourg, P., Gillett, G.T., Hemmati, P.G., Köhler, W., Kühl, J.S., Snowden, J.A., Stadler, M., Suarez, F., Vuong, G.L.   +9 more
core   +1 more source

A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies [PDF]

, 2014
Leukodystrophies (LD) and genetic leukoencephalopathies (gLE) are disorders that result in white matter abnormalities in the central nervous system (CNS).
Bernard, Geneviève, Helman, Guy, Leventer, Richard J., McNeill, Nathan H., on behalf of the GLIA Consortium, Parikh, Sumit, Patterson, Marc C., Pizzino, Amy, Rizzo, William B., Schmidt, Johanna L., Simons, Cas, Taft, Ryan J., van der Knaap, Marjo S., van Hove, Johan, Vanderver, Adeline   +14 more
core   +7 more sources