Results 131 to 140 of about 2,187,180 (317)

Variants in AKR1D1 and Infant Mortality: Should Bile Acid Screening be a Routine Part of Newborn Screening?

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic pathogenic variants in AKR1D1 cause Δ4‐3‐oxosteroid 5β‐reductase deficiency, disrupt bile acid synthesis, and result in Congenital Bile Acid Synthesis defect type 2 (CBAS2). CBAS2 presents in infancy with cholestasis, coagulopathy, and failure to thrive.
Jade Hudson, Stephanie Hyunh, Bojana Rakic, Cornelius Boerkoel   +3 more
wiley   +1 more source

Insights into Novel Infant Milk Formula Bioactives

Nutrition and Dietary Supplements, 2020
Jordan Skolnick,1 Claire Chou,1 John Miklavcic1,2 1Schmid College of Science and Technology, Chapman University, Orange, CA 92866, USA; 2School of Pharmacy, Chapman University, Irvine, CA 92618, USACorrespondence: John MiklavcicSchmid College of Science ...
Skolnick J, Chou C, Miklavcic J
doaj  

The economic value of food labels: A lab experiment on safer infant milk formula [PDF]

Enterobacter sakazakii, a pathogen that can be found in powdered infant milk formula, can cause adverse health effects on infants. Using Vickrey auction, this study examines parents' willingness to pay (WTP) for a quality assurance label on powdered ...
Goldberg, Isabell, Nayga, Rodolfo M., Jr., Roosen, Jutta   +2 more
core   +1 more source

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison   +9 more
wiley   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Longitudinal investigation of mineral composition in human milk and its correlation with infant anthropometric outcomes among Tibetan mother-infant dyads during the first 6 months postpartum

Food Science and Human Wellness
Nutrients in human milk, including minerals, relate growth and development of breast-fed infants. Tibetan mother-infant dyads possess unique characteristics on early nutrition due to their featured long-lasting life-style.
Xiaomei Zhang, Yaling Wang, Junying Zhao, Weicang Qiao, Yanpin Liu, Lijun Chen   +5 more
doaj   +1 more source

Effect of Pre- and Perinatal Factors and Infant Nutrition on the Intestinal Microbiota. [PDF]

Nutrients, 2023
Łoniewska B, Łoniewski I.
europepmc   +1 more source

‘The Other Parent’: A Critical Policy Analysis of Fatherhood Discourses in the Australian Government's Paid Parental Leave Scheme

Australian Journal of Social Issues, EarlyView.
ABSTRACT The Australian paid parental leave (PPL) government scheme aims to support working parents through financial assistance and the promotion of gender equality in caregiving responsibilities. However, the scheme's implementation has been critiqued for its gendered design, which marginalises fathers and reinforces traditional gender roles.
Lily Lewington, Bernadette Sebar, Jessica Lee   +2 more
wiley   +1 more source

National and International Monitoring of Student Literacy and Numeracy Attainment: The Case for Rigorous Macro and Micro Analysis

Australian Journal of Social Issues, EarlyView.
ABSTRACT In her 2024 paper Are Australian students' academic skills declining? Interrogating 25 years of national and international standardised assessment data, Larsen compiled an impressive summary of major international (PISA, PIRLS and TIMSS) and national (NAPLAN) standardised assessments pertaining to literacy and numeracy.
Pamela C. Snow, Tanya A. Serry, Jennifer Buckingham, Lorraine S. Hammond, Stephen Dinham, Eamon Charles, Tessa A. Weadman, Nathanial R. Swain, Susan Hiland, Tessa Daffern   +9 more
wiley   +1 more source

PENGARUH WAKTU PENGENALAN PERTAMA SUSU FORMULA TERHADAP KEJADIAN GIZI LEBIH PADA BAYI USIA 11 - 12 BULAN [PDF]

, 2004
Pengenalan susu formula kepada bayi merupakan masalah yang saat ini mulai banyak timbul di Indonesia. Memberikan susu formula kepada bayi dianggap lebih bergengsi dan lebih praktis dari pada memberikan ASI kepada bayi. Kandungan zat gizi susu formula dan
NUGRAHANINGSIH, PRAMA
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