Results 81 to 90 of about 30,878 (268)

Breastfeeding Success among Infants with Phenylketonuria [PDF]

, 2012
Breast milk is the nutrition of choice for human infants (American Academy of Pediatrics, 2005; American Association of Family Physicians, 2008; Association of Women’s Health Obstetric and Neonatal Nurses, 2005; Canadian Paediatric Society, 2005; U.S ...
Agostoni, American Academy of Pediatrics, American Association of Family Physicians, Association of Women's Health Obstetric and Neonatal Nurses, Blau, Canadian Paediatric Society, Cornejo, Cummings, de Baulny, Demirkol, Dhondt, Ernest, Forster, Gail M. Houck, Greve, Guthrie, Hoddinott, Horta, Huner, Huner, Huttenlocher, Ip, Janas, Jervis, Kanufre, Kathleen A. Knafl, Kathleen C. Shelton, Kaye, Lonnerdal, Malamud, McCabe, Meyers, Motzfeldt, Nancy D. Lowe, Nayman, Sandra A. Banta-Wright, Scriver, Segev, Therrell, Thulier, U.S. Preventive Services Task Force, van Rijn, World Health Organization, World Health Organization, Zachariassen   +44 more
core   +3 more sources

Real‐world comparison of first‐line antiseizure monotherapy and the role of age at treatment initiation in newly diagnosed childhood epilepsy: A cohort study from a tertiary center

Epilepsia, EarlyView.
Abstract Objective This study was undertaken to evaluate the real‐world effectiveness and tolerability of first‐line antiseizure medication (ASM) monotherapy in children with newly diagnosed epilepsy, focusing on comparative outcomes across developmental age groups and ASM types, and identifying clinical risk factors of treatment failure.
Ningshan Li, Huiting Zhang, Chaoran Yang, Xiaoying Qiao, Dezhi Cao, Lina Men, Guangjun Yu, Jianxiang Liao   +7 more
wiley   +1 more source

From Presence to Policy: The Conditional Impact of Women's Representation in Top Management Teams in Chinese Local Governments

Public Administration, EarlyView.
ABSTRACT While public administration research has begun exploring the impact of women's representation in top leadership positions in public organizations, the conditions under which women's representation in top management teams (TMTs) produces policies specifically benefiting women remain underexamined.
Ting Huang, Shahidul Hassan, Anders Ryom Villadsen, Hongtao Yi   +3 more
wiley   +1 more source

Assessment of Metabolic Parameters For Autism Spectrum Disorders [PDF]

, 2009
Autism is a brain development disorder that first appears during infancy or childhood, and generally follows a steady course without remission. Impairments result from maturation-related changes in various systems of the brain.
Ghosh, S, Koch, M, Rao, Mr AN, Shobha, G, Suresh Kumar, V   +4 more
core  

Frequency of the IVS-10nt546 mutation in 44 Turkish phenylketonuria patients

The Turkish Journal of Pediatrics, 1993
The newly identified point mutation in intron 10 of the phenylalanine hydroxylase gene activates a cryptic splice site and results in an in-frame insertion of nine nucleotides between exons 10 and 11 of the processed transcript.
M Ozgüç, I Ozalp, T Coşkun, E Yilmaz, H Erdem, S Ayter   +5 more
doaj  

Phenylketonuria Diet Promotes Shifts in Firmicutes Populations

Frontiers in Cellular and Infection Microbiology, 2019
Low-phenylalanine diet, the mainstay of treatment for phenylketonuria (PKU), has been shown to increase glycemic index and glycemic load, affecting the availability of substrates for microbial fermentation.
Giulia Bassanini, Camilla Ceccarani, Camilla Ceccarani, Francesca Borgo, Marco Severgnini, Valentina Rovelli, Giulia Morace, Elvira Verduci, Elvira Verduci, Elisa Borghi   +9 more
doaj   +1 more source

Phenylketonuria [PDF]

, 2004
Genome research is emerging as a new and important tool in biology used to obtain information on gene sequences, genomic interaction, and how genes work in concert to produce the final syndrome or phenotype. Defect in phenylalanine hydroxylase (PAH) gene
Matalon, Reuben, Michals-Matalon, Kimberlee, Surendran, Sankar, Tyring, Stephen K.   +3 more
core  

Myopathic Symptoms and Exercise Tolerance in Adolescent Patients With Long‐Chain Fatty Acid Oxidation Disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 5, September 2025.
ABSTRACT Long‐chain fatty acid oxidation disorders are characterized by rhabdomyolysis, often provoked by physical exercise. For the newborn screening (NBS) cohort, it remains uncertain to what extent they will develop the myopathic phenotype. This study assesses physiological responses to exercise, muscle symptoms, and activity levels in 14 adolescent
Marit Schwantje, Marco van Brussel, Tim Takken, Monique G. M. de Sain‐van der Velden, Mirjam Langeveld, Gepke Visser, Sabine A. Fuchs   +6 more
wiley   +1 more source

Histopathological Effects on the Eye Development During Perinatal Growth of Albino Rats Maternally Treated with Experimental Phenylketonuria During Pregnancy [PDF]

, 2016
Phenylketonuria (PKU) is a genetic disorder that is characterized by an inability of the body to utilize the essential amino acid, phenylalanine. The disease results from a deficiency in phenylalanine hydroxylase, the enzyme catalyzing the conversion of ...
Ebied, H. M. (Hala), Elsayyad, H. I. (Hassan), Hefty, H. A. (Hany), Mohallal, M. E. (Mahmoud)   +3 more
core  

Delivering the Message: Translating mRNA Therapy for Liver Inherited Metabolic Diseases

Journal of Inherited Metabolic Disease, Volume 48, Issue 5, September 2025.
ABSTRACT mRNA encapsulated in lipid nanoparticles (LNPs) provides a dual revolution in the field of gene therapy. mRNA brings fleeting efficacy and the possibility to adjust the therapy to clinical needs. LNP, as a non‐viral vehicle with flexible organ‐targeting, overcomes most immune complications of viral gene therapy. mRNA‐LNP has rapidly progressed
Sonam Gurung, Dany Perocheau, Roopkatha Ghosh, Stephen L. Hart, Julien Baruteau   +4 more
wiley   +1 more source