Results 61 to 70 of about 2,341 (138)

Supplemental technologies of liver ultrasound investigation at the 1-st type tyrosinemia in pediatrics

Российский журнал гастроэнтерологии, гепатологии, колопроктологии, 2015
Aim of investigation. To carry out objective estimation of liver parenchyma state in children with the 1-st type hereditary tyrosinemia (НТ-1) by ultrasound method with quantitative estimation of hepatic parenchyma pattern.Material and methods.
G. M. Dvoryakovskaya, S. A. Ivleva, I. V. Dvoryakovsky, S. I. Polyakova   +3 more
doaj  

Trial Readiness: Understanding the Natural History of Rare Diseases

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Inherited metabolic diseases (IMD) represent the largest and still growing group of treatable genetic disorders and are increasingly amenable to targeted interventions that achieve varying degrees of prognostic improvement. Innovative therapies are on the horizon and offer promising opportunities for disease‐changing treatment for a variety of
Thomas Opladen, Ulrike Mütze, Florian Gleich, Sven F. Garbade, Oya Kuseyri Hübschmann, Matthias Zielonka, Stefan Kölker   +6 more
wiley   +1 more source

Clinical Features of 29 Patients with Hereditary Tyrosinemia I in Western Turkey

Journal of Pediatric Research, 2018
Aim:The aim of this study was to investigate the long-term outcome of hereditary tyrosinemia Type I (HTI) patients treated with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) to increase knowledge about the clinical outcome in these ...
Havva Yazıcı, Esra Er, Ebru Canda, Sara Habif, Sema Kalkan Uçar, Mahmut Çoker   +5 more
doaj   +1 more source

CRISPR Technology in Disease Management: An Updated Review of Clinical Translation and Therapeutic Potential

Cell Proliferation, Volume 58, Issue 11, November 2025.
CRISPR‐Cas systems offer transformative genome editing capabilities for precise manipulation of cellular genes. This enables two main therapeutic avenues: ex vivo modification of patient cells for re‐transplantation or direct in vivo gene targeting via advanced delivery methods.
Bahareh Farasati Far, Marziyeh Akbari, Mohammad Amin Habibi, Morteza Katavand, Sherko Nasseri   +4 more
wiley   +1 more source

Fallo hepático aguda asociado a enfermedades metabólicas hereditarias en niños pequeños

Anales de Pediatría, 2018
Resumen: Introducción: El fallo hepático agudo (FHA) secundario a enfermedades metabólicas hereditarias (EMH) es una enfermedad grave infrecuente de mal pronóstico. La intervención temprana puede salvar vidas. Objetivo: Describir la presentación clínica,
Filipa Dias Costa, Rita Moinho, Sandra Ferreira, Paula Garcia, Luísa Diogo, Isabel Gonçalves, Carla Pinto   +6 more
doaj   +1 more source

Advances and Strategies in Enhancing mRNA Cancer Vaccines

Advanced Materials, Volume 37, Issue 42, October 23, 2025.
Messenger RNA (mRNA) vaccines offer a powerful approach for cancer immunotherapy, but their clinical impact remains limited by delivery challenges and suboptimal immune activation. This review discusses key biological barriers and design strategies—including structural optimization, immunomodulation, organ targeting delivery, and advanced nanocarriers ...
Miao Zhang, Shengqi Chen, Haijun Hu, Yenhui Ong, Qianqian Ni   +4 more
wiley   +1 more source

Acute liver failure related to inherited metabolic diseases in young children

Anales de Pediatría (English Edition), 2018
Introduction: Pediatric acute liver failure (ALF) due to inherited metabolic diseases (IMD) is a rare life-threatening condition with a poor prognosis. Early intervention may be lifesaving.
Filipa Dias Costa, Rita Moinho, Sandra Ferreira, Paula Garcia, Luísa Diogo, Isabel Gonçalves, Carla Pinto   +6 more
doaj   +1 more source

Hereditary tyrosinaemia type 1 in the absence of succinylacetone: 4‐oxo 6‐hydroxyhepanoate (4OHHA), a putative diagnostic biomarker

JIMD Reports
Hereditary tyrosinemia type 1 (HT1) is a rare metabolic disease resulting in acute liver failure in early infancy, hypophosphataemic rickets, neurological crises, liver cirrhosis and risk of hepatocellular carcinoma later on in life.
Preeya Rehsi, Karolina Witek, Erin Emmett, Rachel Carling, Charles Turner, Neil Dalton, Tim Hutchin, Nedim Hadzic, Anil Dhawan, Roshni Vara   +9 more
doaj   +1 more source

A Lithuanian Case of Tyrosinemia Type 1 with a Literature Review: A Rare Cause of Acute Liver Failure in Childhood

Medicina
Hereditary type 1 tyrosinemia (HT1) is a rare inherited autosomal recessive disorder of tyrosine metabolism, characterized by progressive liver damage, dysfunction of kidney tubules, and neurological crises.
Rūta Rokaitė, Agnė Čibirkaitė, Vykinta Zeleckytė, Gabija Lazdinytė, Mindaugas Dženkaitis   +4 more
doaj   +1 more source

Bridging Paediatric Liver Diseases to Adult Care: What Does the Gastroenterologist Need to Know? [PDF]

European Medical Journal Gastroenterology, 2015
Advances in medical and surgical therapy mean that significant numbers of children with previously fatal liver disease are surviving into adult life. In particular, 80% of transplant recipients now survive for over 20 years.
Deirdre A. Kelly
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