Results 71 to 80 of about 1,800 (193)

Mechanisms of Neuronal Damage in Acute Hepatic Porphyrias [PDF]

, 2021
Porphyrias are a group of congenital and acquired diseases caused by an enzymatic impairment in the biosynthesis of heme. Depending on the specific enzyme involved, different types of porphyrias (i.e., chronic vs. acute, cutaneous vs.
Andrea Ricci, Elena Di Pierro, Matteo Marcacci, Paolo Ventura   +3 more
core   +1 more source

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

Liver Cirrhosis Patients Who Had Normal Liver Function Before Liver Cirrhosis Development Have the Altered Metabolic Profiles Before the Disease Occurrence Compared to Healthy Controls

Frontiers in Physiology, 2019
Liver cirrhosis (LC) is the final usual outcome of liver damage induced by various chronic liver diseases. Because of asymptomatic nature of LC, it is usually diagnosed at late and advanced stages, and patients are easy to miss the best timing for ...
Hye Jin Yoo, Hye Jin Yoo, Keum Ji Jung, Minkyung Kim, Minjoo Kim, Minsik Kang, Sun Ha Jee, Yoonjeong Choi, Jong Ho Lee, Jong Ho Lee   +9 more
doaj   +1 more source

Hereditary tyrosinemia type 1 in an infant with multiple congenital defects

Лечащий Врач, 2023
Hereditary tyrosinemia type 1 or hepatorenal tyrosinemia is a severe orphan autosomal-recessive disorder of tyrosine metabolism caused by a deficiency of the enzyme fumarylacetoacetate hydrolase (FAH).
H. A. Sarkisyan, S. V. Cherkasova, A. A. Fadeeva, A. S. Yarushnikova, Yu. S. Piliuzina, A.  B. Smolyannikova, E. I. Shabelnikova, L. M.  Makarova, M. A. Ovsyannikova, L. A. Levchenko, T. G. Demyanova   +10 more
doaj   +1 more source

Overview of European Practices for Management of Tyrosinemia Type 1: Towards European Guidelines

Journal of Inherited Metabolic Disease, Volume 48, Issue 5, September 2025.
ABSTRACT The introduction of nitisinone (NTBC) and newborn screening for Tyrosinemia type 1 (TT1) enabled preemptive treatment of patients, thereby significantly improving outcomes by preventing liver, kidney, and neurological issues. Treatment goals have shifted from emergency treatment to long‐term care.
Allysa M. Kuypers, Anibh M. Das, Arianna Maiorana, M. Rebecca Heiner‐Fokkema, Francjan J. van Spronsen, The TT1 MetabERN Professional Collaboration Group, Diana Ballhausen, Lukasz Kaluzny, François‐Guillaume Debray, Yngve Thomas Bliksrud, Katarina Brennerova, Amaya Bélanger‐Quintana, Joanna Taybert, Yılmaz Yıldız, Ayşegül Tokatlı, Serap Sivri, Ali Dursun, Paula Sánchez Pintos, Amelie S. Lotz‐Havla, Ute Spiekerkoetter, Natalie Weinhold, Julia Neugebauer, Corinne de Laet, Agne Cerkauskaite Kerpauskiene, Andrea Bordugo, Fatma Derya Bulut, Pascale De Lonlay, Allan M. Lund, Dagmar Prochazkova, Ana Gaspar, Alessandro Rossi, Beata Kieć‐Wilk, Dorothea Haas, Eva Thimm, Javier de las Heras, Jiri Zeman, Marion Brands, Sarah Catharina Grünert, Margreet A. E. Wagenmakers, Francesco Porta, Urh Groselj   +40 more
wiley   +1 more source

Emergency Management of Intoxication‐Type Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.
ABSTRACT In many intoxication‐type inherited metabolic disorders, the accumulation of the toxic chemical can cause acute life‐threatening emergencies. Sometimes this is the inevitable consequence of a severe metabolic defect, but it is often triggered by catabolism.
J. Dexter Tarr, Andrew A. M. Morris
wiley   +1 more source

A Non-Derivatized Assay for the Simultaneous Detection of Amino Acids, Acylcarnitines, Succinylacetone, Creatine, and Guanidinoacetic Acid in Dried Blood Spots via Tandem Mass Spectrometry

International Journal of Neonatal Screening, 2016
Guanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessive genetic disorder which results in global developmental delay and intellectual disability. There is evidence that early treatment prevents intellectual disability and seizures.
Carter K. Asef, Kameron M. Khaksarfard, Víctor R. De Jesús   +2 more
doaj   +1 more source

Liver transplantation for tyrosinemia. A review of 10 cases from the University of Pittsburgh. [PDF]

, 1990
Results of liver transplantation in 10 patients with tyrosinemia are reviewed. The indications for transplantation were: hepatoma in three, acute liver failure in two, and progressive chronic liver disease in five. One patient died during surgery. Of the
Esquivel, CO, Koneru, B, Makowka, L, Mieles, L, Starzl, TE, Stieber, A, Todo, S, Tzakis, A, Van Thiel, D   +8 more
core  

Iron distribution in Belgrade rat reticulocytes after inhibition of heme synthesis with succinylacetone [PDF]

Blood, 1993
We have used succinylacetone (4,6-dioxoheptanoic acid), a specific inhibitor of delta-aminolevulinic acid dehydrase, to gain insight into the defect in iron metabolism in the Belgrade anemia. The Belgrade rat has an inherited microcytic, hypochromic anemia associated with poor iron uptake into developing erythroid cells.
L M, Garrick, K, Gniecko, Y, Liu, D S, Cohan, J A, Grasso, M D, Garrick   +5 more
openaire   +3 more sources

Deciphering the Molecular Pathways: How Polygonatum sibiricum Alleviates Myocardial Ischemia

Journal of Food Biochemistry, Volume 2025, Issue 1, 2025.
Herbal medicine, like Polygonatum sibiricum, is gaining attention for its potential in treating myocardial ischemia. Comprehensive research on its molecular interplay is essential for its development as a therapeutic agent. The aim is to investigate the molecular mechanisms by which Polygonatum sibiricum ameliorates myocardial ischemia.
Zhenzhong Zhu, Junzhi Pan, Bin Jiang, Yuanlong Zhang, Yanxia Lv, Yifan Pan, Yunxiang Wang, Weijun Lv, Snehasis Chakraborty   +8 more
wiley   +1 more source