Results 61 to 70 of about 13,975 (131)

First National Expanded Genomic Newborn Screening Program in Qatar; A Pilot Study, Doha‐Heidelberg Collaboration

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2374-2380, October 2026.
Reem Alsulaiman, Sarah Okashah, Radja Messai Badji, Fatemeh Abbaszadeh, Yaser Alsarraj, Rehab Ali Abdulrahman, Noora Shahbeck, Thalib Moideen, Reema El Hassan, Fatima Al‐Hamaydeh, Einas Alkuwari, Said Ismail, Hilal Al‐ Rifai, Ghassan Abdoh, Christian P. Schaaf, Georg Hoffmann, Saad Al‐Kaabi, Wadha Al‐Muftah, Tawfeg Ben‐Omran   +18 more
wiley   +1 more source

Clinical Presentation and Early Outcomes of Congenital Endocrine Salt‐Wasting Syndromes Unrelated to 21‐Hydroxylase Deficiency

Endocrinology, Diabetes &Metabolism, Volume 9, Issue 4, July 2026.
Early‐onset endocrine salt‐wasting syndromes unrelated to 21‐hydroxylase deficiency overlap markedly at presentation, limiting etiological distinction. In this 20‐patient cohort, disease‐specific patterns emerged during follow‐up, while growth was generally preserved and initial biochemical severity was not associated with later treatment burden or ...
Vittorio Ferrari, Valentina Assirelli, Emma Bonaguri, Giovanni Silva, Rita Ortolano, Federico Baronio, Marcello Lanari, Antonio Balsamo   +7 more
wiley   +1 more source

Biochemistry and genetics of inherited disorders of peroxisomal fatty acid metabolism[S]

Journal of Lipid Research, 2010
In humans, peroxisomes harbor a complex set of enzymes acting on various lipophilic carboxylic acids, organized in two basic pathways, α-oxidation and β-oxidation; the latter pathway can also handle ω-oxidized compounds.
Paul P. Van Veldhoven
doaj   +1 more source

A review of genetic modification for ex vivo cellular therapies

Transfusion, Volume 66, Issue S2, Page S45-S57, September 2026.
Anh Dinh, Nan Zhang, David Stroncek
wiley   +1 more source

Innovative tree-based method for sampling molecular conformations: exploring the ATP-binding cassette subfamily D member 1 (ABCD1) transporter as a case study

Frontiers in Molecular Biosciences
We introduce a novel tree-based method for visualizing molecular conformation sampling. Our method offers enhanced precision in highlighting conformational differences and facilitates the observation of local minimas within proteins fold space.
Thomas Haschka, Foudil Lamari, Fanny Mochel, Violetta Zujovic   +3 more
doaj   +1 more source

Bone marrow transplantation in patients with storage diseases: a developing country experience

Arquivos de Neuro-Psiquiatria, 2006
Bone marrow transplantation (BMT) is a therapeutic option for patients with genetic storage diseases. Between 1979 and 2002, eight patients, four females and four males (1 to 13 years old) were submitted to this procedure in our center.
Lange Marcos C., Teive Hélio A.G., Troiano André R., Bitencourt Marco, Funke Vaneuza A.M., Setúbal Daniela C., Zanis Neto José, Medeiros Carlos R., Werneck Lineu C., Pasquini Ricardo, Bonfim Carmen M.S.   +10 more
doaj  

Transcriptomic analysis of identical twins with different onset ages of adrenoleukodystrophy

Frontiers in Neuroscience
IntroductionAdrenoleukodystrophy (ALD) is a rare X-linked neurogenetic disease caused by mutations in the ATP-binding cassette subfamily D member 1 (ABCD1) gene. Currently, the molecular mechanisms underlying the onset and severity of ALD remain unclear.
Chuhua Fu, Qiuyu Su, Qiuyu Su, Yinglian Chen, Yinglian Chen, Yonghui Zhang, Yan Zhang, Ying Cao, Xinggang Wang, Zhiming Zhen, Chen Liu, Chen Liu, Zhao Yang, Changlin Yin, Liang Tan   +14 more
doaj   +1 more source

Corrigendum: Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor

Frontiers in Cell and Developmental Biology, 2021
Rinse W. Barendsen, Rinse W. Barendsen, Inge M. E. Dijkstra, Wouter F. Visser, Mariëlle Alders, Jet Bliek, Anita Boelen, Marelle J. Bouva, Saskia N. van der Crabben, Ellen Elsinghorst, Ankie G. M. van Gorp, Annemieke C. Heijboer, Annemieke C. Heijboer, Mandy Jansen, Yorrick R. J. Jaspers, Henk van Lenthe, Ingrid Metgod, Ingrid Metgod, Christiaan F. Mooij, Elise H. C. van der Sluijs, A. S. Paul van Trotsenburg, Rendelien K. Verschoof-Puite, Frédéric M. Vaz, Hans R. Waterham, Frits A. Wijburg, Marc Engelen, Eugènie Dekkers, Stephan Kemp, Stephan Kemp   +28 more
doaj   +1 more source

Letter to the Editor from Erdoğan Özbuğday and Karakurt: "Primary adrenal insufficiency resulting in diagnosis of rare <i>ABCD1</i> pathogenic variant in X-linked adrenoleukodystrophy". [PDF]

JCEM Case Rep
Erdoğan Özbuğday H, Karakurt F.
europepmc   +1 more source

Bálint syndrome as the presenting manifestation of adrenoleukodystrophy

Neurology Perspectives, 2023
R. Ghosh, M. León-Ruiz, K. Bole, S. Bandyopadhyay, S. Dubey, J. Benito-León   +5 more
doaj   +1 more source