Results 91 to 100 of about 19,093 (232)

X-linked adrenoleukodystrophy in Norway Clinical and epidemiological aspects [PDF]

, 2016
In this thesis for the degree of PhD, cand.med. Morten Andreas Horn and his coworkers have surveyed the Norwegian population of patients with X-linked adrenoleukodystrophy.
Horn, Morten Andreas
core   +1 more source

MicroRNA and metabolomics signatures for adrenomyeloneuropathy disease severity

JIMD Reports, 2022
Adrenomyeloneuropathy (AMN), the slow progressive phenotype of adrenoleukodystrophy (ALD), has no clinical plasma biomarker for disease progression. This feasibility study aimed to determine whether metabolomics and micro‐RNA in blood plasma provide a ...
Bela Rui Turk, Laila Marie Poisson, Christina Linnea Nemeth, Jordan Goodman, Ann B. Moser, Richard Owen Jones, Ali Fatemi, Jaspreet Singh   +7 more
doaj   +1 more source

Prospective Study of Targeted Busulfan–Fludarabine Conditioning for Hematopoietic Stem Cell Transplantation in Genetic Rare Diseases

European Journal of Haematology, EarlyView.
ABSTRACT Objectives Genetic rare diseases (GRDs), including chronic granulomatous disease, familial hemophagocytic lymphohistiocytosis, and congenital neutropenia, often require hematopoietic stem cell transplantation (HSCT) as the only curative option.
Bo Kyung Kim, Kyung Taek Hong, Jung Yoon Choi, Hyun Jin Park, Kyung‐Sang Yu, In‐Jin Jang, Hyoung Jin Kang   +6 more
wiley   +1 more source

Targeting of the human adrenoleukodystrophy protein to the peroxisomal membrane by an internal region containing a highly conserved motif [PDF]

, 2020
In this study we addressed the targeting requirements of peroxisomal ABC transporters, in particular the human adrenoleukodystrophy protein. This membrane protein is defective or missing in X-linked adrenoleukodystrophy, a neurodegenerative disorder ...
Mayerhofer, PU, Roscher, AA, Landgraf, P, Holzinger, A, Polanetz, R   +4 more
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Psychological Impact of Presymptomatic X-Linked ALD Diagnosis and Surveillance: A Small Qualitative Study of Patient and Parent Experiences

International Journal of Neonatal Screening
X-linked adrenoleukodystrophy (ALD) is a rare metabolic disorder. Symptoms range from cerebral demyelination (cALD) to adrenal insufficiency and slowly progressive myeloneuropathy.
Cecilie S. Videbæk, Sabine W. Grønborg, Allan M. Lund, Mette L. Olesen   +3 more
doaj   +1 more source

Characterization of Adult Patients With Neurometabolic Disorders: A Cross‐Sectional Study at a Tertiary Neurology Center in Sweden

JIMD Reports, Volume 67, Issue 5, September 2026.
ABSTRACT Adult patients with inherited metabolic diseases are often overlooked. Limited data on this population hinder adequate planning of their clinical and social care. In this retrospective, observational, cross‐sectional service evaluation study, we reviewed the electronic medical records of adult patients with inherited neurometabolic diseases ...
Boel Ernerdahl, Ashraf Yahia, Andreas Puschmann   +2 more
wiley   +1 more source

Propofol infusion syndrome or adrenoleukodystrophy? [PDF]

, 2013
Following a propofol anesthetic, a 5-year-old girl with lower extremity spasticity seized and developed hypertriglyceridemia, hyperkalemia, and metabolic acidosis.
Karaman, Yucel, Karaarslan, Utku, Agin, Hasan, Goktay, Aylin   +3 more
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Clinical phenotype and genetic characteristics of five patients with adrenomyeloneuropathy

Chinese Journal of Contemporary Neurology and Neurosurgery, 2022
Objective To report 5 patients with adrenomyeloneuropathy (AMN), and to summarize the clinical phenotype and gene mutation characteristics in combination with literature and mutation database.
LIU Xiao⁃li , ZHANG Bin , ZHAN Fei⁃xia , CAO Li   +3 more
doaj   +1 more source

Empowering Clinical Development With Disease Progression Modeling: Recommendations From the Clinical Trials Transformation Initiative

Clinical and Translational Science, Volume 19, Issue 8, August 2026.
ABSTRACT Evaluating the benefit–risk profile of a medical product requires comprehensive evidence that integrates information across development stages. Technological advances and broader use of real‐world data are enabling innovative quantitative paradigms characterized by greater efficiency, patient centricity, and sustainability.
Lindsay S. Kehoe, Shu Chin Ma, Jiang Liu, Qi Liu, Herbert Pang, Bruce Burnett, Reem Yunis, Karthik Venkatakrishnan   +7 more
wiley   +1 more source

Methionine metabolism and phenotypic variability in X-linked adrenoleukodystrophy [PDF]

, 2006
A combined genotype of polymorphisms of methionine metabolism has been associated with CNS demyelination in methotrexate-treated patients. Within a sample of 86 patients with X-linked adrenoleukodystrophy, this genotype was overrepresented in a subgroup ...
Kemp, S., Klockgether, T., Wullner, U., Kemp, S (Stephan), Kohler, W, Gartner, J, Linnebank, M, Schmidt, S, Schmidt, S., Fliessbach, K., Kleijer, WJ (Wim), Klockgether, T, Sokolowski, P, Gärtner, Jutta, van der Sterre, M. L. T., Kohler, W., Semmler, A, Wanders, Ronald J. A., Wanders, RJA, Linnebank, M., Sterre, Marianne, Fliessbach, K, Wullner, U, Semmler, A., Schlegel, U, Kleijer, W. J., Sokolowski, P., Schlegel, U.   +27 more
core   +1 more source