Results 61 to 70 of about 1,232,023 (188)

The Spectrum of Abnormal Tongue Movements: Review of Phenomenology, Etiology, and Differential Diagnosis

Movement Disorders Clinical Practice, Volume 13, Issue 6, Page 1383-1398, June 2026.
ABSTRACT Background Classifying abnormal tongue movements is challenging due to their varied presentations and limited visibility compared to other body parts. Accurate identification of the phenomenology guides physical examination and can point to specific diagnoses.
Nathaniel Bendahan, Seyed‐Mohammad Fereshtehnejad, Christos Ganos, Emily Swinkin, Anthony E. Lang   +4 more
wiley   +1 more source

Laypeople's Views on the Narrative Identity and Societal Treatment of Genetically Modified People

Bioethics, Volume 40, Issue 5, Page 472-481, June 2026.
ABSTRACT Genome editing in human embryos could raise new ethical issues by changing future people's narrative and numerical identity. Most philosophers agree that some genetic modifications would have larger effects on identity than others, but they disagree on what criteria might explain these differences and have not supported their claims ...
Derek So, Yann Joly, Robert Sladek
wiley   +1 more source

Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome-0

, 2011
Copyright information:Taken from "Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome"http://www.OJRD.com/content/2/1/48Orphanet Journal of Rare Diseases 2007;2():48-48.Published online 8 Dec 2007PMCID:PMC2234399.al ...
Juan G Puig (86486), Rosa J Torres (86485)   +1 more
core   +1 more source

Normal Uricemia in Lesch–Nyhan Syndrome and the Association with Pulmonary Embolism in a Young Child—A Case Report and Literature Review

Pediatrics and Neonatology, 2014
Deficiency of hypoxanthine phosphoribosyltransferase activity is a rare inborn error of purine metabolism with subsequent uric acid overproduction and neurologic presentations.
Jeng-Dau Tsai, Shan-Ming Chen, Chien-Heng Lin, Min-Sho Ku, Teng-Fu Tsao, Ji-Nan Sheu   +5 more
doaj   +1 more source

Continued Involvement: A Scoping Review on Family Members' Needs and Experiences Collaborating With Support Staff for Relatives With Intellectual Disabilities Living Outside the Family Home

Journal of Intellectual Disability Research, Volume 70, Issue 6, Page 561-578, June 2026.
ABSTRACT Background Family members' involvement in the care for their relative often continues after their relative has moved out of the family home. However, little is known about the needs of family members when collaborating specifically with support staff caring for their relative.
Frances R. Vereijken, Noud Frielink, Andrew Jahoda, Petri J. C. M. Embregts   +3 more
wiley   +1 more source

Lesch–Nyhan syndrome in a female patient: exploring uncommon symptomatology

The Egyptian Journal of Neurology, Psychiatry and Neurosurgery
Lesch–Nyhan syndrome is a disorder associated with the inadequacy of the hypoxanthine phosphoribosyl-transferase 1 enzyme, which plays a significant role in the purine salvage pathway that leads to urate overproduction and its range of neurological ...
Apeksha Merja, Avinash Khadela, Shruti Soni, Hetvi Bharadia, Vraj B. Shah   +4 more
doaj   +1 more source

A Novel Multimodal LC–MS/MS Panel for the Comprehensive Diagnosis of Neurometabolic Disorders in CSF

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Metabolic testing of cerebrospinal fluid (CSF) is essential for early diagnosis of neurometabolic disorders. However, the large number of differential diagnoses, the phenotypic variance within a clinical picture, and the disease rarity complicate targeted metabolic diagnostics.
Stine Christ, Julia Rossmann, Sylvia Richter, Sven Garbade, Glynis Klinke, Nenad Blau, Georg Friedrich Hoffmann, Jürgen Günther Okun, Thomas Opladen   +8 more
wiley   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Action Dystonia in Lesch-Nyhan Disease

, 2006
The motor disorder associated with Lesch-Nyhan disease (LND) was studied in a total of 44 patients (ages 2 to 38 years) seen at Johns Hopkins Hospital, Baltimore, MD, and other US and international ...
J Gordon Millichap, Millichap, J. Gordon
core   +1 more source

Anticholinergic Burden and Botulinum Toxin Needs after Deep Brain Stimulation in Adult and Pediatric Patients with Dystonia

Movement Disorders Clinical Practice, Volume 13, Issue 3, Page 774-778, March 2026.
Abstract Background Anticholinergic medications and botulinum neurotoxin injections are established treatments for dystonia, yet they carry potential side effects and practical challenges. Deep brain stimulation (DBS) is offered in case of poor response to these approaches.
Marcela A. Montiel, Alessandro Magliozzi, Wei Kang Lim, Carolina Gorodetsky, George M. Ibrahim, Alfonso Fasano   +5 more
wiley   +1 more source