Results 181 to 190 of about 36,711 (394)
Abstract This is the first episode of a series of four discussions on the differences between males and females, in apparently non‐andrological fields. You will read the transcript of discussions that actually took place at the Endocrinology Unit in Modena, Italy, in the form of the aporetic dialogues of ancient Greece.
Giulia Brigante+7 more
wiley +1 more source
In Reply: Revised Method of Proton NMR Urinalysis for Detecting Inborn Errors of Metabolism: a Critique [PDF]
Shuichi Yamaguchi
openalex +1 more source
The Laboratory Diagnosis of Selected Inborn Errors of Metabolism [PDF]
J. B. Holton
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We report an individual with mucopolysaccharidosis type IIIB and chronic pancytopenia. Hematological studies in a mouse model revealed microcytic anemia and decreased monocyte count. Hence, pancytopenia is thought to be secondary to mucopolysaccharidosis type IIIB, and we suggest that a complete blood count should be included in the clinical ...
Éliane Beauregard‐Lacroix+3 more
wiley +1 more source
Selective screening for inborn errors of metabolism-past, present and future [PDF]
Gustav Hoffmann
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IMPROVE 2023: The 2nd International Meeting on Pathway‐Related Obesity: Vision & Evidence
ABSTRACT A total of 150 clinicians and researchers representing 19 countries came together in person and online to participate in the highly anticipated 2nd International Meeting on Pathway‐Related Obesity: Vision & Evidence (IMPROVE), held on 13–15 December 2023 in Paris, France.
Karine Clément+19 more
wiley +1 more source
Lack of 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase/isomerase in fibroblasts from a child with urinary excretion of 3 beta-hydroxy-delta 5-bile acids. A new inborn error of metabolism. [PDF]
Marie S. Buchmann+6 more
openalex +1 more source
ABSTRACT Bariatric surgery is the most clinically‐ and cost‐effective intervention for severe obesity. However, without adequate follow‐up, it can lead to nutritional deficiencies. Patients require life‐long nutritional supplements and follow‐up to prevent nutritional deficiencies from developing.
Sophie Haughton+2 more
wiley +1 more source
Inborn errors of metabolism (IEM) revealed by Reye's syndrome (RS) [PDF]
Michaël Fayon
openalex +1 more source
Intracellular tryptophan levels modulate selective autophagy of FTH1 via the NCOA4 pathway. This autophagic process then inhibits 6‐HMT synthesis, which then results in an increase in reactive oxygen species and ferroptosis. ABSTRACT Hepatocellular carcinoma (HCC) remains a lethal malignancy with limited therapeutic options.
Xinxiang Cheng+10 more
wiley +1 more source