Results 51 to 60 of about 27,934,643 (129)

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

First National Expanded Genomic Newborn Screening Program in Qatar; A Pilot Study, Doha‐Heidelberg Collaboration

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2374-2380, October 2026.
Reem Alsulaiman, Sarah Okashah, Radja Messai Badji, Fatemeh Abbaszadeh, Yaser Alsarraj, Rehab Ali Abdulrahman, Noora Shahbeck, Thalib Moideen, Reema El Hassan, Fatima Al‐Hamaydeh, Einas Alkuwari, Said Ismail, Hilal Al‐ Rifai, Ghassan Abdoh, Christian P. Schaaf, Georg Hoffmann, Saad Al‐Kaabi, Wadha Al‐Muftah, Tawfeg Ben‐Omran   +18 more
wiley   +1 more source

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

Diagnosis of Inherited Metabolic Disease in Older Patients: A Systematic Literature Review

Journal of Inherited Metabolic Disease, Volume 48, Issue 3, May 2025.
ABSTRACT Inherited metabolic diseases (IMDs) are genetic disorders that disrupt biochemical processes in the human body, due to pathogenic variants in genes encoding enzymes or transporters. While IMDs are mostly diagnosed in infancy or childhood, there is an increasing number of diagnoses in adult patients.
Maria‐Rita Moio, Julia Cordeiro Milke, Yannick Moutapam‐Ngamby‐Adriaansen, Arthur Minas Alberti, Marie Gernay, Eduardo Augusto Schutz, Ida Vanessa Doederlein Schwartz, François Maillot   +7 more
wiley   +1 more source

Helper-dependent adenoviral vectors in the treatment of citrullinemia

, 2000
Citrullinemia is a urea cycle disorder characterized by deficiency of argininosuccinate synthetase (ASS). Gene therapy correction in both humans and animal models will require high levels of hepatocyte transduction and long-term transgene expression.
Bodamer, Olaf, O\u27Brien, William, Mull, Benjamin, Pastore, Lucio, Lee, Brendan, Mian, Asad, Toietta, Gabriele, Beaudet, Arthur   +7 more
core   +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

Adult-onset type II citrullinemia: Current insights and therapy

, 2018
Kiyoshi Hayasaka,1,2 Chikahiko Numakura1 1Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan; 2Department of Pediatrics, Miyukikai Hospital, Kaminoyama, Japan Abstract: Citrin deficiency is a recessively inherited metabolic
Hayasaka K, Numakura C
core  

Transient fulminant liver failure as an initial presentation in citrullinemia type I

, 2011
Citrullinemia type I (CTLN1) is a urea cycle disorder which typically presents in the neonatal period or infancy with hyperammonemia and concurrent neurologic deterioration. We report a 15-month-old female with CTLN1 who presented with encephalopathy and
Hannaneh Faghfoury, Johannes Häberle, Ogier de Baulny, H, Andreas Schulze, Häberle, J, Faghfoury, H, Schulze, A, Julian Baruteau, Baruteau, J, Helene Ogier de Baulny   +9 more
core   +1 more source

Amino Acid Metabolism and Immune Dysfunction in Urea Cycle Disorders: T and B Cell Perspectives

Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.
ABSTRACT Urea cycle disorders (UCDs) are a group of genetic metabolic conditions characterized by enzyme deficiencies responsible for detoxifying ammonia. Hyperammonemia, the accumulation of intermediate metabolites, and a deficiency of essential amino acids—due to a protein‐restrictive diet and the use of ammonia scavengers—can increase the risk of ...
Betul Gemici Karaaslan, Ayca Kiykim, Nihan Burtecene, Meltem Gokden, Mehmet Serif Cansever, Duhan Hopurcuoglu, Gökçe Nuran Cengiz, Birol Topcu, Tanyel Zubarioğlu, Ertugrul Kiykim, Haluk Cokuğras, Ayse Cigdem Aktuglu Zeybek   +11 more
wiley   +1 more source

Current Understanding of Pathogenic Mechanisms and Disease Models of Citrin Deficiency

Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.
ABSTRACT Citrin deficiency (CD) is a complex mitochondrial disease with three different age‐related stages: neonatal intrahepatic cholestasis caused by CD (NICCD), failure to thrive and dyslipidemia caused by CD (FTTDCD), and type II citrullinemia (CTLN2), recently renamed adolescent and adult CD (AACD).
Denis Lacabanne, Alice P. Sowton, Bosco Jose, Edmund R. S. Kunji, Sotiria Tavoulari   +4 more
wiley   +1 more source