Small Duplication of HPRT 1 Gene May Be Causative For Lesh-Nyhan Disease in Iranian Patients [PDF]
, 2015 How to Cite This Article: Boroujerdi R, Shariati M, Naddafnia H, Rezaei H. Small Duplication of HPRT 1 Gene May Be Causative For Lesh-Nyhan Disease in Iranian Patients. Iran J Child Neurol.
BOROUJERDI, Razieh +3 more
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Laypeople's Views on the Narrative Identity and Societal Treatment of Genetically Modified People
Bioethics, EarlyView.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
EXAMINING THE RELATIONSHIP BETWEEN GENETIC COUNSELORS’ IMPLICIT ATTITUDES TOWARD DISABILITY AND THEIR PRACTICE METHODS [PDF]
, 2018 Genetic counselors serve as a link between the medical community and the disability community as they are regularly the first exposure families have following a new diagnosis in a pregnancy, infant or child.
Gould, Helen W
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EFFECTIVE STOMATOLOGICAL MAINTENANCE OF PEDIATRIC PATIENT WITH LESCH–NYHAN SYNDROME
Вопросы современной педиатрии, 2014 A rare clinical case of stomatological maintenance of 11-year old boy with Lesch-Nyhan syndrome (primary x-linked hyperuricemia) is demonstrated in the article. In order to decrease trauma risk of oral cavity organs and soft tissues (due to autoagression)
N. V. Tarasova, V. G. Galonskii
doaj +1 more source
Discovering functionally important sites in proteins
Nature Communications, 2023 Proteins play important roles in biology, biotechnology and pharmacology, and missense variants are a common cause of disease. Discovering functionally important sites in proteins is a central but difficult problem because of the lack of large ...
Matteo Cagiada +6 more
doaj +1 more source
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 +3 more
wiley +1 more source
Habitual biting of a finger in a child
Indian Journal of Paediatric Dermatology, 2017 A 3-year-old male child was brought by his parents with a nonhealing ulcer on the right middle finger having no significant history except for an injury sustained to the right elbow in December 2013. On further probing, the mother revealed that the child
K N Sarveswari +2 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 +8 more
wiley +1 more source
The differential diagnosis of Huntington's disease-like syndromes: 'red flags' for the clinician [PDF]
, 2013 A growing number of progressive heredodegenerative conditions mimic the presentation of Huntington's disease (HD). Differentiating among these HD-like syndromes is necessary when a patient with a combination of movement disorders, cognitive decline ...
Bhatia, KP, Martino, D, Stamelou, M
core
Salivary biomarkers of HPA axis and autonomic activity in adults with intellectual disability with and without stereotyped and self-injurious behavior disorders [PDF]
, 2011 Salivary levels of biomarkers for the hypothalamic–pituitary–adrenal axis (HPA; cortisol) and sympatho-adreno-medullary system (SAM; α-amylase) were measured in 51 adults (57% male) with neurodevelopmental disorders associated with intellectual ...
Frank J. Symons +4 more
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