Results 71 to 80 of about 6,373 (223)

A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report

Orphanet Journal of Rare Diseases, 2009
A male patient, born to unrelated Belgian parents, presented at 4 months with epistaxis, haematemesis and haematochezia. On physical examination he presented petechiae and haematomas, and a slightly enlarged liver.
Kvittingen Eli-Anne, Holme Elisabeth, Zeevaert Renate, Cassiman David, Jaeken Jaak   +4 more
doaj   +1 more source

New insights into applications of base editor in hereditary disorders

Interdisciplinary Medicine, Volume 3, Issue 6, November 2025.
Abstract Hereditary disorders are a group of diseases caused by genetic mutations or chromosomal variations. Although the incidence of each genetic disorder is relatively low, patients affected by the disease generally experience a range of severe symptoms, including blindness, disability, and even premature death. In addition, the available treatments
Maoping Cai, Linhui Zhang, Liqing Li, Yue Liu, Canbin Lv, Yan Shi, Jianyuan Zhao, Dingwei Ye, Yuanyuan Qu   +8 more
wiley   +1 more source

Pseudodendritic keratitis in citrullinemia; a report of an unusual and novel ocular finding in this metabolic disorder

American Journal of Ophthalmology Case Reports
Purpose: To report a 15 year old girl with citrullinemia type 1 and 2 accompanied by neurologic signs and symptoms and a novel ocular complaint in cornea like tyrosinemia type 2.
Davoud Amirkashani, Saeid Talebi, Mohammad Vafaei shahi, Ali Zekri, Parisa Abdi, Mahdokht Mehramiz   +5 more
doaj   +1 more source

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 and molecular characterization of three patients with Hepatocerebral form of mitochondrial DNA depletion syndrome: a case series

BMC Medical Genetics, 2019
Background Mitochondrial DNA depletion syndromes (MDS) are clinically and phenotypically heterogeneous disorders resulting from nuclear gene mutations.
Ghazale Mahjoub, Parham Habibzadeh, Hassan Dastsooz, Malihe Mirzaei, Arghavan Kavosi, Laila Jamali, Haniyeh Javanmardi, Pegah Katibeh, Mohammad Ali Faghihi, Seyed Alireza Dastgheib   +9 more
doaj   +1 more source

Tyrosinemia [PDF]

Liver Transplantation, 2002
Russell, Lam, Arturo, Armenta, Murat, Kilic, Saul J, Karpen, Fernando, Scaglia, Philip, Seu, John A, Goss   +6 more
openaire   +2 more sources

Fungal infections in liver transplant recipients [PDF]

, 1985
Sixty-two adults who underwent orthotopic liver transplantations between February 1981 and June 1983 were followed for a mean of 170 days after the operation. Twenty-six patients developed 30 episodes of significant fungal infection.
Dummer, JS, Ho, M, Iwatsuki, S, Shaw, B, Starzl, TE, Van Thiel, DH, Wajszczuk, CP   +6 more
core   +1 more source

Total hepatectomy and liver replacement (orthotopic liver transplantation) for primary hepatic malignancy [PDF]

, 1982
There has been a high incidence of tumor recurrence after liver transplantation for primary hepatic malignancy. Nevertheless, a small but significant palliation has been possible with this approach, even in patients who eventually died of recurrence. Two
Goran B. G. Klintmalm, J. Terblanche, R.Y. Calne, Shunzaburo Iwatsuki, T.E. Starzl, T.E. Starzl, T.E. Starzl, Thomas E. Starzl   +7 more
core   +1 more source

A clinical case of late diagnosis of a chronic type I tyrosinemia

Consilium Medicum
Tyrosinemia type 1 is a genetic disease mainly of the first months and years of life caused by a violation of normal tyrosine catabolism with the formation of final toxic metabolites that have a direct damaging effect on the liver and kidneys with the ...
Natalia V. Chebotareva, Elvira D. Stafeeva, Olga А. Li, Agunda M. Kuchieva, Svetlana I. Polyakova, Jamal T. Abdurakhmanov, Sergey V. Moiseev   +6 more
doaj   +1 more source

LABRAD : Vol 39, Issue 2 - December 2013 [PDF]

, 2013
Diagnosis of Inborn Errors of Metabolism in Pakistan Inherited Metabolic Disorders-Presenting as Metabolic Emergencies Role of Biochemical Genetics Laboratary in Evaluation of IEM Amino Acid Chromatography for the Diagnosis of Inborn Error of Metabolism ...
Aga Khan University Hospital, Karachi
core   +1 more source