Results 91 to 100 of about 24,692 (277)

Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases. [PDF]

, 2018
PurposeTo describe examples of missed pathogenic variants on whole-exome sequencing (WES) and the importance of deep phenotyping for further diagnostic testing.MethodsGuided by phenotypic information, three children with negative WES underwent targeted ...
Bellet, Jane, Del Gaudio, Daniela, El-Dairi, Mays, Goldstein, David B, Hendon, Laura G, Jasien, Joan, Jiang, Yong-Hui, Jones, Kelly L, Kansagra, Sujay, Keels, Martha Ann, Kranz, Peter G, Lark, Robert K, Leung, Marco L, McConkie-Rosell, Allyn, Nagaraj, Shashi K, Noel, Richard, Parker, Collette C, Pena, Loren DM, Rapisardo Horn, Sarah, Schoch, Kelly, Shashi, Vandana, Smith, Edward C, Spillmann, Rebecca C, Stong, Nicholas, Sullivan, Jennifer A, Undiagnosed Diseases Network Members, Walley, Nicole, Wechsler, Daniel SG   +27 more
core   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy

Journal of Clinical Investigation, 2019
Sphingolipid imbalance is the culprit in a variety of neurological diseases, some affecting the myelin sheath. We have used whole-exome sequencing in patients with undetermined leukoencephalopathies to uncover the endoplasmic reticulum lipid desaturase ...
D. Pant, I. Dorboz, A. Schluter, S. Fourcade, Nathalie Launay, J. Joya, S. Aguilera-Albesa, M. Yoldi, C. Casasnovas, M. Willis, M. Ruiz, D. Ville, G. Lesca, K. Siquier-Pernet, I. Desguerre, Huifang Yan, Jingmin Wang, M. Burmeister, L. Brady, M. Tarnopolsky, Carles Cornet, D. Rubbini, J. Terriente, Kiely N. James, D. Musaev, M. Zaki, M. Patterson, Brendan C Lanpher, E. Klee, F. Pinto e Vairo, Elizabeth S Wohler, N. Sobreira, Julie S. Cohen, R. Maroofian, H. Galehdari, Neda Mazaheri, G. Shariati, L. Colleaux, D. Rodriguez, J. Gleeson, C. Pujades, A. Fatemi, O. Boespflug-Tanguy, A. Pujol   +43 more
semanticscholar   +1 more source

A Study on the Origin of Peroxisomes: Possibility of Actinobacteria Symbiosis [PDF]

, 2008
The origin of peroxisomes as having developed from the endoplasmic reticulum (ER) was proposed on the basis of the similarity between some peroxisomal proteins and ER proteins, and the localization of some peroxisomal proteins on the ER.
Duhita Narendra, Hamada Kazuo, Horiike Tokumasa, Miyata Daisuke, Saruhashi Satoshi, Shinozawa Takao   +5 more
core   +2 more sources

Precision medicine in paediatrics: Progress and priorities

British Journal of Clinical Pharmacology, EarlyView.
Precision medicine is revolutionizing personalized healthcare, advancing both diagnostics and therapeutics at an unprecedented pace. Reviewing the paediatric applications of pharmacometrics, pharmacogenomics and advanced therapy medicinal products highlights not only the relevance of these exciting innovations to frontline care but also the significant
Nicola Husain, Claire Booth, Joseph F. Standing, Charlotte I. S. Barker   +3 more
wiley   +1 more source

Effect of Delayed Diagnosis of Phenylketonuria With Imaging Findings of Bilateral Diffuse Symmetric White Matter Lesions: A Case Report and Literature Review

Frontiers in Neurology, 2019
Phenylketonuria is a hereditary metabolic disorder due to the deficiency of tetrahydrobiopterin or phenylalanine hydroxylase. Delayed diagnoses of it manifest a progressive irreversible neurological impairment in the early years of the disease.
Shuna Chen, Mingqin Zhu, Yulei Hao, Jiachun Feng, Ying Zhang   +4 more
doaj   +1 more source

Kinetika i aktivnost leukocitne arilsulfataze A u osoba s dijagnozom cerebralne paralize [PDF]

, 2006
Activity and kinetics of arylsulfatase A (ASA, EC 3.1.6.8) were analyzed in leukocyte homogenates derived from patients suffering from cerebral palsy.
BLAZENKA FORETIC, IVANA FURAC, SVJETLANA KALANJ BOGNAR, ZDRAVKO GRUBESIC, ZELJKA VUKELIC   +4 more
core   +1 more source

Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification. [PDF]

, 2020
Since 2013, the International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) has published an updated phenotypic classification of IEI, which accompanies and complements their genotypic classification ...
Ailal, Fatima, Al-Herz, Waleed, Bousfiha, Aziz, Casanova, Jean-Laurent, Chatila, Talal, Cunningham-Rundles, Charlotte, Etzioni, Amos, Franco, Jose Luis, Holland, Steven M, Jeddane, Leila, Klein, Christoph, Morio, Tomohiro, Ochs, Hans D, Oksenhendler, Eric, Picard, Capucine, Puck, Jennifer, Sullivan, Kathleen E, Tangye, Stuart G, Torgerson, Troy R   +18 more
core  

Isolated Corticospinal Tract Lesions as an Early Manifestation of Adrenoleukodystrophy in Children

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Purpose X‐linked adrenoleukodystrophy (ALD) encompasses a wide range of neurological manifestations, classically described as distinct phenotypes including childhood cerebral adrenoleukodystrophy and adult‐onset adrenomyeloneuropathy (AMN).
Elle Winter, Amanda Nagy, Yedda Li, Otto Rapalino, Catherine L. Becker, Joseph Locascio, Camilo Jaimes, Florian Eichler   +7 more
wiley   +1 more source

The pathology of X-linked adrenoleukodystrophy: tissue specific changes as a clue to pathophysiology

Orphanet Journal of Rare Diseases
Although the pathology of X-linked adrenoleukodystrophy (ALD) is well described, it represents the end-stage of neurodegeneration. It is still unclear what cell types are initially involved and what their role is in the disease process.
Hemmo A.F. Yska, Marc Engelen, Marianna Bugiani   +2 more
doaj   +1 more source