Results 11 to 20 of about 879,135 (289)

Muscle Hypotonia in Lowe’s Syndrome

open access: yesPediatric Neurology Briefs, 1991
As part of a comprehensive evaluation of 23 patients with the oculocerebrorenal syndrome of Lowe at the Section on Human Biochemical Genetics, National Institutes of Health, Bethesda, MD, concentrations of muscle enzymes and carnitine metabolism were ...
J Gordon Millichap
doaj   +4 more sources

Causes &clinical presentation of hypotonia in children [PDF]

open access: yesمجلة كلية الطب, 2010
Background: Hypotonia is not a specific medical disorder, but a potential manifestation of many different diseases and disorders. The long-term effects of hypotonia on a child's development and later life depend primarily on the severity of the muscle ...
Mahjoob N. AL-Naddawi   +2 more
doaj   +2 more sources

Deletion of PREPl causes growth impairment and hypotonia in mice. [PDF]

open access: yesPLoS ONE, 2014
Genetic studies of rare diseases can identify genes of unknown function that strongly impact human physiology. Prolyl endopeptidase-like (PREPL) is an uncharacterized member of the prolyl peptidase family that was discovered because of its deletion in ...
Anna Mari Lone   +5 more
doaj   +2 more sources

Muscarinic Inhibition of Hypoglossal Motoneurons: Possible Implications for Upper Airway Muscle Hypotonia during REM Sleep. [PDF]

open access: yesJ Neurosci, 2019
Proper function of pharyngeal dilator muscles, including the genioglossus muscle of the tongue, is required to maintain upper airway patency. During sleep, the activity of these muscles is suppressed, and as a result individuals with obstructive sleep apnea experience repeated episodes of upper airway closure when they are asleep, in particular during ...
Zhu L, Chamberlin NL, Arrigoni E.
europepmc   +4 more sources

A Case of Anaphylaxis with Unusual Clinical Presentation that Obscured Early Diagnosis [PDF]

open access: yesPediatric Emergency Medicine Journal, 2014
Anaphylaxis is a severe systemic allergic reaction, which progresses rapidly and may cause death. However, the diagnosis of anaphylaxis is difficult because initial symptoms and signs of anaphylaxis have various patterns.
Se Uk Lee   +4 more
doaj   +1 more source

Peroxisomes are required for lipid metabolism and muscle function in Drosophila melanogaster. [PDF]

open access: yesPLoS ONE, 2014
Peroxisomes are ubiquitous organelles that perform lipid and reactive oxygen species metabolism. Defects in peroxisome biogenesis cause peroxisome biogenesis disorders (PBDs).
Joseph E Faust   +8 more
doaj   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN-Digenic Myopathy. [PDF]

open access: yesAnn Clin Transl Neurol
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Orbach R   +23 more
europepmc   +2 more sources

Quick Tips For XL Real Muscle Gainer.

open access: yes, 2021
XL Real Muscle Gainer There have been some studies on each of these ingredients, so be sure to check out what the research has found. Keep the spark alive in the bedroom! As you know, couples who are sexually active are more likely to be happier in their
XL Real Muscle Gainer
core   +2 more sources

Neonatal hypotonia: A case series [PDF]

open access: yes, 2022
Floppy baby is a non-specific and potentially serious multisystem disorder in the neonatal period. Diagnosing hypotonia in a newborn is very difficult as many disorders could manifest with diminished tone.
Polanki, Raghava   +9 more
core   +1 more source

Research progress of floppy infant syndrome

open access: yesChinese Journal of Contemporary Neurology and Neurosurgery, 2018
The term "floppy infant" is used for describing children presenting with muscle hypotonia at or shortly after birth. The clinical manifestation of floppy infants is skeletal muscle hypotonia, which may be caused by a lot of reasons.
Chao-ping HU, Xi-hua LI
doaj   +1 more source

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