Results 91 to 100 of about 6,798 (210)

New cases of δ‐aminolevulinic acid dehydratase deficiency: Functional insights into gene variants using an innovative mouse liver model

Journal of Internal Medicine, Volume 299, Issue 1, Page 126-142, January 2026.
Abstract Background Dysfunction of δ‐aminolevulinic acid dehydratase (ALAD), the second enzyme involved in heme biosynthesis, leads to two pathologies: genetic and acquired. The genetic form is an ultrarare, severe childhood‐onset disease inherited in an autosomal recessive manner, whereas the acquired form usually affects adults due to enzyme ...
Elena Di Pierro, Isabel Solares, Daniel Jericó, Francisco J. Castelbón, Javier Tomás Solera, Antoni Riera‐Mestre, María Barreda‐Sánchez, Carlo Poci, Annamaria Nicolli, Francesco Urigo, Ana Sampedro, Rafael Enríquez de Salamanca, Matteo Marcacci, Matías A. Ávila, Pauline Harper, Marta G. Fanlo‐Maresma, Encarna Guillén‐Navarro, Giovanna Graziadei, Andrea Wenzel, Bodo B. Beck, Paolo Ventura, Montserrat Morales‐Conejo, Antonio Fontanellas   +22 more
wiley   +1 more source

Fatores precipitantes na porfiria cutânea tardia no Brasil com ênfase\ud nas mutações do gene (HFE) da hemocromatose. Estudo de 60 casos [PDF]

, 2013
BACKGROUND:\ud Porphyria cutanea tarda is the most common form of porphyria, characterized by the decreased activity of the uroporphyrinogen decarboxylase enzyme.
Abrantes-Lemos, Clarice Pires, Cançado, Eduardo Luiz Rachid, Nakhle, Maria Cristina, Reis, Vitor Manoel Silva dos, Vieira, Fatima Mendonça Jorge   +4 more
core   +1 more source

Testing for HFE-related haemochromatosis [PDF]

, 2011
HFE-haemochromatosis is a genetic disorder resulting from mutations of the HFE gene. It primarily affects people of Northern European descent. Clinical manifestations result from the progressive deposition of iron into various organs including the liver.
Crawford, Darrell H. G., St John, Andrew T., Stuart, Katherine A.   +2 more
core   +1 more source

The Evolving Trend of Liver Transplantation in Metabolic Diseases: From Origins to Current Perspectives

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Liver transplantation (LTx) has become, over the years, an increasingly used therapeutic option in patients with inherited metabolic diseases (IMD). Initially performed for Tyrosinemia Type I and ornithine transcarbamylase deficiency, it now accounts as the second indication for pediatric transplants worldwide. The use of LTx has been extended
Andrea Pietrobattista, Diego Martinelli, Marco Spada, Carlo Dionisi‐Vici   +3 more
wiley   +1 more source

Variegate porphyria onset as neurovisceral manifestation and unusual sensory impairment distribution. Case report

Brain Disorders
Background: Acute hepatic porphyrias are heme metabolism disorders presenting with a broad clinical spectrum, including neurovisceral manifestations. Peripheral neuropathy is one of the most frequent complications in porphyrias and can correspond about ...
Lucas Grobério Moulim de Moraes, Caroline Colnago Demoner, Amanda Ambrosini Cipriano, Giselle Alves de Oliveira, Raphael de Paula Doyle Maia, Paula Zago Melo Dias, Mariana Lacerda Reis Grenfell, Renann Nunes Pirola, Marcelo Ramos Muniz   +8 more
doaj   +1 more source

Persistent Beetroot Colored Urine in a Three‐Year‐Old Child: A Case Report

Clinical Case Reports, Volume 13, Issue 10, October 2025.
Clinically manifest porphyria cutanea tarda (PCT) is rare in children. Of ~1400 cases diagnosed at Porphyria Center Sweden, only five were children, all with pathogenic UROD variants and HFE homozygous. Diagnosis is often delayed; in our case, beetroot‐red urine prompted suspicion despite the absence of cutaneous symptoms.
Pauline Harper, Carl‐Johan Törnhage, Eliane Sardh   +2 more
wiley   +1 more source

Long-term follow-up of givosiran treatment in patients with acute intermittent porphyria from a phase 1/2, 48-month open-label extension study

Orphanet Journal of Rare Diseases
Background Acute hepatic porphyria is a group of multisystem disorders of which acute intermittent porphyria is the most common subtype. Givosiran, a subcutaneously administered RNA interference therapeutic targeting liver ALAS mRNA, is approved for ...
Eliane Sardh, Manisha Balwani, David C. Rees, Karl E. Anderson, Gang Jia, Marianne T. Sweetser, Bruce Wang   +6 more
doaj   +1 more source

Seizures and electroencephalographic findings in inborn errors of metabolism: Clues to differential diagnosis in the neonatal period, infancy, childhood and adolescence, and review of the literature

Epileptic Disorders, Volume 27, Issue 5, Page 745-802, October 2025.
Abstract Although inborn errors of metabolism (IEM) are a rare cause of epilepsy, seizures are a common presentation in these disorders. Seizures in IEM are frequently refractory to conventional anti‐seizure medication and might warrant initiation of specific treatments based on vitamins or dietary modifications or provision of alternative substrates ...
D. Kapoor, S. Sharma, A. Kaminska, R. Nabbout, N. Chemaly, M. Schiff, P. De Lonlay, M. Eisermann   +7 more
wiley   +1 more source

Site Selective Antibody-Oligonucleotide Conjugation via Microbial Transglutaminase. [PDF]

, 2019
Nucleic Acid Therapeutics (NATs), including siRNAs and AntiSense Oligonucleotides (ASOs), have great potential to drug the undruggable genome. Targeting siRNAs and ASOs to specific cell types of interest has driven dramatic improvement in efficacy and ...
Cui, Xianshu, Dowdy, Steven F, Huggins, Ian J, Jadhav, Satish, Medina, Carlos A, Springer, Aaron D, van den Berg, Arjen   +6 more
core   +1 more source

Pediatric liver transplantation: A single center experience spanning 20 years [PDF]

, 2002
Background. Survival after liver transplantation has improved significantly over the last decade with pediatric recipients faring better than adults.
Andrews, Andrews, Asfar, Ashok Jain, Beath, Beverly Kosmach-Park, Burdelski, Demetris, Dunn, Dunn, Eckhoff, George Mazariegos, Goss, Goss, Goss, Green, Jain, Jain, Jain, Jain, Jain, Jain, John Fung, Jorge Reyes, Kilpe, McDiarmid, McDiarmid, Migliazza, Randeep Kashyap, Reyes, Reyes, Sher, T.E. Starzl, Tzakis, Van der Werf   +34 more
core   +1 more source