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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1974 1
1975 4
1976 5
1977 4
1978 9
1979 8
1980 14
1981 11
1982 12
1983 12
1984 20
1985 15
1986 21
1987 13
1988 17
1989 19
1990 24
1991 13
1992 17
1993 15
1994 12
1995 18
1996 13
1997 13
1998 13
1999 23
2000 14
2001 16
2002 16
2003 11
2004 11
2005 15
2006 20
2007 16
2008 8
2009 10
2010 15
2011 8
2012 10
2013 12
2014 20
2015 18
2016 18
2017 18
2018 11
2019 7
2020 0
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590 results
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Page 1
Carnitine deficiency in preterm infants: A national survey of knowledge and practices.
Clark MA, et al. J Neonatal Perinatal Med 2017. PMID 29286927
Only 21% of respondents were aware that carnitine is secreted by the placenta. 72% believed that carnitine deficiency was common, and 60% believed deficiency could have serious consequences. ...Thus, many preterm infants remain at risk for carnitine deficiency. Further research is needed to elucidate the risks of carnitine deficiency in these vulnerable infants....
Only 21% of respondents were aware that carnitine is secreted by the placenta. 72% believed that carnitine deficiency w …
Acetyl-l-carnitine deficiency in patients with major depressive disorder.
Nasca C, et al. Proc Natl Acad Sci U S A 2018 - Clinical Trial. PMID 30061399 Free PMC article.
The endogenously produced molecule acetyl-l-carnitine (LAC) is critical for hippocampal function and several behavioral domains. ...Secondary exploratory analyses showed that the degree of LAC deficiency reflected both the severity and age of onset of MDD. ...
The endogenously produced molecule acetyl-l-carnitine (LAC) is critical for hippocampal function and several behavioral domains. ...S …
Brain carnitine deficiency causes nonsyndromic autism with an extreme male bias: A hypothesis.
Beaudet AL. Bioessays 2017 - Review. PMID 28703319 Free PMC article.
We hypothesize that nonsyndromic or "essential" autism involves extreme male bias in infants who are genetically normal, but they develop deficiency of carnitine and perhaps other nutrients in the brain causing autism that may be amenable to early reversal and prevention. That brain carnitine deficiency might cause autism is suggested by reports of severe carnitine deficiency in autism and by evidence that TMLHE deficiency - a defect in carnitine biosynthesis - is a risk factor for autism. ...
We hypothesize that nonsyndromic or "essential" autism involves extreme male bias in infants who are genetically normal, but they develop …
Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management.
Magoulas PL and El-Hattab AW. Orphanet J Rare Dis 2012 - Review. PMID 22989098 Free PMC article.
Systemic primary carnitine deficiency (CDSP) is an autosomal recessive disorder of carnitine transportation. The clinical manifestations of CDSP can vary widely with respect to age of onset, organ involvement, and severity of symptoms, but are typically characterized by episodes of hypoketotic hypoglycemia, hepatomegaly, elevated transaminases, and hyperammonemia in infants; skeletal myopathy, elevated creatine kinase (CK), and cardiomyopathy in childhood; or cardiomyopathy, arrhythmias, or fatigability in adulthood. ...CDSP should be differentiated from secondary causes of carnitine deficiency such as various organic acidemias and fatty acid oxidation defects. ...
Systemic primary carnitine deficiency (CDSP) is an autosomal recessive disorder of carnitine transportation. The clinic …
Carnitine deficiency.
[No authors listed] Lancet 1990 - Review. PMID 1969018
Absolute and Relative Carnitine Deficiency in Patients on Hemodialysis and Peritoneal Dialysis.
Naseri M, et al. Iran J Kidney Dis 2016. PMID 26837680 Free article.
RESULTS: Absolute carnitine deficiency, low total carnitine, and low AC concentrations were found in 66.7%, 82.6%, and 51% of the patients, respectively. All of the patients had relative carnitine deficiency. Carnitine measurements were not significantly different between the hemodialysis and peritoneal dialysis groups. ...
RESULTS: Absolute carnitine deficiency, low total carnitine, and low AC concentrations were found in 66.7%, 82.6%, and …
In HepG2 cells, coexisting carnitine deficiency masks important indicators of marginal biotin deficiency.
Bogusiewicz A, et al. J Nutr 2015. PMID 25527659 Free PMC article.
OBJECTIVE: In this study we hypothesized that coexisting carnitine deficiency can prevent the increase in 3HIAc due to biotin deficiency. METHODS: We used a 2-factor nutrient depletion design to induce isolated and combined biotin and carnitine deficiency in HepG2 cells and then repleted cells with carnitine. ...
OBJECTIVE: In this study we hypothesized that coexisting carnitine deficiency can prevent the increase in 3HIAc due to biotin …
Carnitine deficiency in children receiving continuous renal replacement therapy.
Sgambat K and Moudgil A. Hemodial Int 2016. PMID 26265013
Carnitine deficiency is known to occur in chronic hemodialysis; however, the effect of continuous renal replacement therapy (CRRT) on carnitine homeostasis has not been studied. ...Carnitine is significantly and rapidly depleted with longer time on CRRT, and carnitine deficiency is associated with increased mortality. ...
Carnitine deficiency is known to occur in chronic hemodialysis; however, the effect of continuous renal replacement therapy (C
Carnitine deficiency syndromes.
Breningstall GN. Pediatr Neurol 1990 - Review. PMID 2187442
Carnitine must be transported into skeletal muscle. Myopathic carnitine deficiency occurs when this transport mechanism is defective. Most systemic carnitine deficiencies are secondary to other disorders that promote excretion of carnitine as acylcarnitine; however, primary systemic carnitine deficiency, likely due to impaired renal conservation of carnitine, also occurs....
Carnitine must be transported into skeletal muscle. Myopathic carnitine deficiency occurs when this transport mechanism
Primary carnitine deficiency in a 57-year-old patient with recurrent exertional rhabdomyolysis.
Echaniz-Laguna A, et al. BMJ Case Rep 2018. PMID 29895548 Free PMC article.
We describe the case of a 57-year-old man with recurrent exertional rhabdomyolysis who was diagnosed with systemic primary carnitine deficiency (SPCD). ...Rhabdomyolysis did not recur after treatment with oral L-carnitine was introduced. SPCD is a rare autosomal recessive disorder of carnitine transportation usually manifesting as an infantile (hepatic) or a childhood myopathic (cardiac) condition and rarely affecting adults. ...
We describe the case of a 57-year-old man with recurrent exertional rhabdomyolysis who was diagnosed with systemic primary carnitine
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