Results 31 to 40 of about 5,954 (223)

Pregnancy in an adolescent with maple syrup urine disease: Case report

open access: yesMolecular Genetics and Metabolism Reports, 2021
Maple syrup urine disease (MSUD, MIM #248600) is an autosomal recessive metabolic disorder that results in elevation of the branched-chain amino acids (BCAA) leucine, isoleucine, and valine.
Michelle E. Abadingo   +3 more
doaj   +1 more source

Therapeutic effects of zinc and maple syrup on zinc deficiency in male albino rats [PDF]

open access: yesEgyptian Journal of Nutrition
This study was conducted to investigate the therapeutic effects of zinc (Zn) and maple syrup on zinc deficiency in male albino rats. Thirty adult male Albino rats were randomly divided into 5 groups (6 each).
Yasmina Sultan, Fatma Sarhan
doaj   +1 more source

Therapeutic effects of zinc and maple syrup on zinc deficiency in male albino rats Fatma Wassal [PDF]

open access: yesEgyptian Journal of Nutrition
This study was conducted to investigate the therapeutic effects of zinc (Zn) and maple syrup on zinc deficiency in male albino rats. Thirty adult male Albino rats were randomly divided into 5 groups (6 each).
Yasmina Sultan, Fatma Sarhan
doaj   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco   +6 more
wiley   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

open access: yesEpilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Newborn Screening in Japan—2021

open access: yesInternational Journal of Neonatal Screening, 2022
Japan’s Newborn Mass Screening (NBS) was started in 1977 for amino acid metabolism disorders (phenylketonuria (PKU), homocystinuria, maple syrup urine, histidineemia (discontinued in 1993)) and galactosemia at the national level as a national project [...
Toshihiro Tajima
doaj   +1 more source

Consumers' sensory assessments of bigleaf maple (Acer macrophyllum) syrup give way to a promising artisan industry

open access: yesJSFA reports, Volume 5, Issue 3, Page 113-124, March 2025.
Abstract Background Most pure maple syrup produced in North America is produced from the sap of sugar maple trees (Acer saccharum). Interest is growing to utilize other maple species in different regions of North America outside the native range of sugar maple.
Ann E. Colonna   +2 more
wiley   +1 more source

The maple syrup industry in Canada and the United States: challenges and potential strategies towards a more sustainable development

open access: yesFrontiers in Sustainable Food Systems
While maple syrup as an iconic sweetener predominantly produced in Canada and the United States has experienced significant growth in the past four decades, the industry faces many climate, economic, and policy challenges. This study reviews the industry’
Qingbin Wang   +2 more
doaj   +1 more source

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo   +4 more
wiley   +1 more source

Investigation of chemical and physical properties of southwestern Wisconsin maple syrup [PDF]

open access: yes, 2006
Includes bibliographical ...
Takano, Hiroyuki, Takano, Hiroyuki.
core  

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