Results 51 to 60 of about 68,473 (259)

Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages [PDF]

, 2017
Dystrophic epidermolysis bullosa is a heritable skin disease manifesting with sub-lamina densa blistering, erosions, and chronic ulcers. COL7A1, encoding type VII collagen, has been identified as the candidate gene for dystrophic epidermolysis bullosa. In
Abiri, Maryam, Barzegar, Mohammadreza, Ertel, Adam, Fortina, Paolo, Kajbafzadeh, Abdol Mohammad, Mozafari, Nikoo, Saeidian, Amir Hossein, Sotoudeh, Soheila, Uitto, Jouni, Vahidnezhad, Hassan, Youssefian, Leila, Zeinali, Sirous   +11 more
core   +1 more source

Assessing the causal relationship between the plasma proteome and epilepsy: A Mendelian randomization study

Epilepsia Open, Volume 10, Issue 6, Page 1966-1977, December 2025.
Abstract Objective Understanding the role of plasma proteins in the pathophysiology of epilepsy is crucial for uncovering novel biological mechanisms and therapeutic targets. Mendelian randomization (MR) provides a valuable tool for dissecting potentially causal associations between circulating proteins and disease risk.
Jingfeng Fu, Wei Wu, Shangren Shen
wiley   +1 more source

Antioxidant status in hyperphenylalaninemia

Clinica Chimica Acta, 1998
Abnormal oxidative stress was observed in some inborn errors of metabolism owing to the accumulation of toxic metabolites leading to excessive free radical production and to the influence of restricted diets on the antioxidant status. Erythrocyte antioxidant enzymes activities and tocopherol concentrations were measured in a group of phenylketonuric (n
Sierra C, Vilaseca MA, Moyano D, Brandi N, Campistol J, Lambruschini N, Cambra FJ, Deulofeu R, Mira A   +8 more
openaire   +4 more sources

Metabolic signatures and a diagnostic model for citrin deficiency based on urinary organic acids

Clinical and Translational Medicine, Volume 15, Issue 9, September 2025.
Urinary organic acid profiles in NICCD show enrichment in energy and amino acid pathways. The random forest model differentiates NICCD from non‐specific metabolic abnormalities, both with elevated 4‐hydroxyphenyllactic acid and 4‐hydroxyphenylpyruvic acid, which may cause misdiagnosis. Model explanation and web application help physicians make clinical
Peiyao Wang, Peichun Chen, Xinjie Yang, Ziyan Cen, Yu Zhang, Qimin He, Benqing Wu, Xinwen Huang   +7 more
wiley   +1 more source

Psychopathological Risk Assessment in Children with Hyperphenylalaninemia

Children, 2022
Background: Phenylketonuria (PKU) is a rare congenital disorder caused by decreased metabolism of phenylalanine determining cerebral impairments. If untreated, PKU might lead to intellectual disability, seizures and behavioral disorders.
Maria Cristina Risoleo, Margherita Siciliano, Luigi Vetri, Ilaria Bitetti, Anna Di Sessa, Marco Carotenuto, Francesca Annunziata, Daniela Concolino, Rosa Marotta   +8 more
doaj   +1 more source

Comparison of adeno-associated virus pseudotype 1, 2, and 8 vectors administered by intramuscular injection in the treatment of murine phenylketonuria [PDF]

, 2010
Phenylketonuria (PKU) is caused by hepatic phenylalanine hydroxylase (PAH) deficiency and is associated with systemic accumulation of phenylalanine (Phe).
Alexandre Rebuffat, Beat Thöny, Blau N., Cary O. Harding, Donlon J., Guttler F., Harding C.O., Laipis P.J., Xiao W., Ye G.J., Zhaobing Ding   +10 more
core   +1 more source

Glutamine energy substrate anaplerosis increases bone density in the Pahenu2 classical PKU mouse in the absence of phenylalanine restriction

JIMD Reports, 2022
Osteopenia is an under‐investigated clinical presentation of phenylalanine hydroxylase (PAH)‐deficient phenylketonuria (PKU). While osteopenia is not fully penetrant in human PKU, the Pahenu2 mouse is universally osteopenic and ideal to study the ...
Steven F. Dobrowolski, Yu Leng Phua, Irina L. Tourkova, Cayla Sudano, Jerry Vockley, Quitterie C. Larrouture, Harry C. Blair   +6 more
doaj   +1 more source

Human Milk Feeding in Inherited Metabolic Disorders: A Systematic Review of Growth, Metabolic Control, and Neurodevelopment Outcomes

Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.
ABSTRACT Human milk (HM) is the optimal source of nutrition for infants. Yet the suitability of HM macronutrient composition, paired with the challenge of regulating HM intake, may deserve some consideration for infants with inherited metabolic disorders (IMDs) requiring restrictive and controlled dietary management. Except for classic galactosemia, HM
Fatma Ilgaz, Alexander Höller, Cyril Marsaux, Sandra Banta‐Wright, Turgay Coşkun, Kelly A. Dingess, Monika Jörg‐Streller, Camille Newby, Rani Singh, Bernd Stahl, Clare Szwec, Annemiek van Wegberg, Willie Woestenenk, Anita MacDonald, Daniela Karall   +14 more
wiley   +1 more source

Safety assessment of sapropterin dihydrochloride: real-world adverse event analysis based on the FDA adverse event reporting system (FAERS)

Frontiers in Pharmacology
ObjectiveSapropterin dihydrochloride is the first drug for the therapy of phenylketonuria, which is a rare disease that occurs one of 10,000–15,000 newborns.
Jiahong Zhong, Xihui Yu, Zhuomiao Lin
doaj   +1 more source

Multimodal Metabolomic Analysis Reveals Novel Metabolic Disturbances in Adults With Early Treated Phenylketonuria

JIMD Reports, Volume 66, Issue 2, March 2025.
ABSTRACT Phenylketonuria (PKU) is an inborn error of metabolism responsible for an accumulation of phenylalanine, which leads to cognitive and developmental disorders if left untreated. Most studies of adult PKU focus on neuropsychiatric complications, but new questions have been raised about systemic manifestations of PKU in adulthood.
Yann Dos Santos, Patrick Emond, Ida Vanessa Doederlein Schwartz, Antoine Lefèvre, Camille Dupuy, Gabrielle Chicheri, Hélène Blasco, François Maillot   +7 more
wiley   +1 more source