Inborn errors of metabolism - Open Access .click

Results 161 to 170 of about 2,729,552 (357)

Combined immunodeficiency and inborn errors of purine metabolism [PDF]

, 1978
H.J. Meuwissen, Bernard Pollara
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Genetical theory and the "inborn errors of metabolism". [PDF]

, 1970
H. Harris
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European Consensus on Malabsorption—UEG & SIGE, LGA, SPG, SRGH, CGS, ESPCG, EAGEN, ESPEN, and ESPGHAN

United European Gastroenterology Journal, EarlyView.
ABSTRACT Malabsorption is a complex and multifaceted condition characterised by the defective passage of nutrients into the blood and lymphatic streams. Several congenital or acquired disorders may cause either selective or global malabsorption in both children and adults, such as cystic fibrosis, exocrine pancreatic insufficiency (EPI), coeliac ...
Marco Vincenzo Lenti +29 more
wiley +1 more source

Inborn Errors of Metabolism in Neurology (Wilson's Disease, Refsum's Disease and Lipidoses) [PDF]

, 1971
J. N. Cumings
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European Consensus on Malabsorption—UEG & SIGE, LGA, SPG, SRGH, CGS, ESPCG, EAGEN, ESPEN, and ESPGHAN. Part 1: Definitions, Clinical Phenotypes, and Diagnostic Testing for Malabsorption

United European Gastroenterology Journal, EarlyView.
ABSTRACT Malabsorption is a complex and multifaceted condition characterised by the defective passage of nutrients into the blood and lymphatic streams. Several congenital or acquired disorders may cause either selective or global malabsorption in both children and adults, such as cystic fibrosis, exocrine pancreatic insufficiency (EPI), coeliac ...
Marco Vincenzo Lenti +29 more
wiley +1 more source

Surgical outcomes in male reconstructive urology: The Qatar experience

UroPrecision, EarlyView.
Abstract Introduction Obstructive azoospermia (OA) is a prevalent cause of male infertility in Qatar and globally, with vasectomy reversal (VV) and vasoepididymostomy (VE) being the primary surgical treatments. While microsurgical techniques have advanced, data from the Middle East remain limited, influenced by the region's distinct demographic and ...
Kareim Khalafalla +8 more
wiley +1 more source

Plasma C24:0- and C26:0-lysophosphatidylcholines are reliable biomarkers for the diagnosis of peroxisomal β-oxidation disorders

Journal of Lipid Research
The gold-standard diagnostic test for peroxisomal disorders (PDs) is plasma concentration analysis of very long-chain fatty acids (VLCFAs). However, this method’s time-consuming nature and limitations in cases which present normal VLCFA levels ...
Blai Morales-Romero +9 more
doaj

Systematic review and meta‐analysis of COVID‐19 association with human semen quality: Changes in semen parameters pre‐ and post‐COVID

UroPrecision, EarlyView.
Abstract Coronavirus disease (COVID‐19) is caused by the severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2), which may infect the cells through binding with the angiotensin‐converting enzyme 2 (ACE2) receptors that can also be found in the male reproductive organs.
Wempy Supit, Tommy Supit, Sherryn Sherryn +2 more
wiley +1 more source

Respiratory and systemic monocytes, dendritic cells, and myeloid‐derived suppressor cells in COVID‐19: Implications for disease severity

Journal of Internal Medicine, Volume 293, Issue 2, Page 130-143, February 2023., 2023
Abstract Since the beginning of the SARS‐CoV‐2 pandemic in 2020, researchers worldwide have made efforts to understand the mechanisms behind the varying range of COVID‐19 disease severity. Since the respiratory tract is the site of infection, and immune cells differ depending on their anatomical location, studying blood is not sufficient to understand ...
Sara Falck‐Jones +2 more
wiley +1 more source

Book Review: Phenylketonuria and Some other Inborn Errors of Amino Acid Metabolism [PDF]

, 1972
D. N. Raine
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medicine
biology
biochemistry

humans
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internal medicine

metabolism, inborn errors
inborn error of metabolism
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