Related Experiment Videos
Congenital fumarase deficiency presenting with hypotonia and areflexia
V Narayanan1, W Diven, M Ahdab-Barmada
1University of Pittsburgh, Children's Hospital of Pittsburgh, WHY-NMD Neuromuscular Institute, Pennsylvania, USA.
Journal of Child Neurology
|May 1, 1996
Abstract
No abstract available in PubMed .
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
Expanded carrier screening for inherited genetic disease using exome and genome sequencing.
Journal of genetic counseling·2024
Arterioectatic Spinal Angiopathy of Childhood: Clinical, Imaging, Laboratory, Histologic, and Genetic Description of a Novel CNS Vascular Pathology.
AJNR. American journal of neuroradiology·2022
New development and photocatalytic performance and antimicrobial activity of α-NH4(VO2)(HPO4) nanosheets.
Spectrochimica acta. Part A, Molecular and biomolecular spectroscopy·2022
The Relationship Between Limb Dystonia Severity and Functional Impact in Children With Cerebral Palsy.
Journal of child neurology·2026
Neurophysiological Basis of Mirror Movements in Schizencephaly: A Case Report.
Journal of child neurology·2026
From Metabolic Crises to Epileptic Encephalopathy: TANGO2 Deficiency Disorder due to Homozygous Multi-exon Deletion.
Journal of child neurology·2026
Distinct Clinical Presentations of Menke-Hennekam Syndrome: Insights From CREBBP and EP300 Variants.
Journal of child neurology·2026
Day 1 Cranial Ultrasonography Detects Prenatal Brain Abnormalities in Preterm Infants: A Retrospective Cohort Study.
Journal of child neurology·2026
Machine Learning of Temperature-Dependent Chemical Kinetics Using Parallel Droplet Microreactors.
Advanced science (Weinheim, Baden-Wurttemberg, Germany)·2026
Multiwavelength Implantable Oximeter for Wireless Monitoring of Tissue Oxygenation in the Presence of Blood Volume Changes.
Advanced healthcare materials·2026
Can large defects be closed laparoscopically without component separation?
Rozhledy v chirurgii : mesicnik Ceskoslovenske chirurgicke spolecnosti·2026
A Novel Preclinical Rat Model of Acute Compartment Syndrome.
Journal of orthopaedic research : official publication of the Orthopaedic Research Society·2026
A geometric tensor-based computational framework for harmonizing thyroid function tests across laboratories with dissimilar reference intervals.
Computer methods and programs in biomedicine·2026