Results 71 to 80 of about 3,221 (198)

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

Foetal disruptive brain injuries: Diagnosing the underlying pathogenetic mechanisms with cranial ultrasonography

Developmental Medicine &Child Neurology, Volume 67, Issue 11, Page 1383-1408, November 2025.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16431 Abstract Antenatal destructive events affecting the central nervous system of the foetus lead to disruptive brain lesions that are often associated with impaired neurodevelopment.
Ana Alarcón, Nuria Carreras, Tobias Muehlbacher, Dídac Casas‐Alba, Roberta Arena, Paola Roca‐Llabrés, Juan Navarro‐Morón, Linda S. de Vries, Paul Govaert, the EurUS.Brain group, Thais Agut, Roberta Arena, Ana Alarcón, Juan Arnáez, Marco Bartocci, Isabel Benavente‐Fernández, María Carmen Bravo, Fernando Cabañas, Nuria Carreras, Olivier Claris, Jeroen Dudink, Monica Fumagalli, Alfredo García‐Alix, Paul Govaert, Sandra Horsch, Simón Lubián, Tobias Muehlbacher, Alessandro Parodi, Adelina Pellicer, Luca Ramenghi, Charles C. Roehr, Simone Schwarz, Sylke Steggerda, Eva Valverde   +33 more
wiley   +1 more source

Primary hyperoxaluria Type 1: organic aciduria diagnosed in plasma [PDF]

, 2013
Background: Primary hyperoxaluria Type 1 (PH1) is a rare autosomal recessive inborn error of glyoxylate metabolism, caused by a deficiency of the liver-specific peroxisomal enzyme alanine:glyoxylate aminotransferase.
Dias, Aureliano, Rodrigues, Marilia, Valongo, Carla, Vilarinho, Laura   +3 more
core  

Inborn Errors of Metabolism in the Era of Untargeted Metabolomics and Lipidomics. [PDF]

, 2019
Inborn errors of metabolism (IEMs) are a group of inherited diseases with variable incidences. IEMs are caused by disrupting enzyme activities in specific metabolic pathways by genetic mutations, either directly or indirectly by cofactor deficiencies ...
Fiehn, Oliver, Ismail, Israa T, Showalter, Megan R   +2 more
core   +2 more sources

The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study [PDF]

, 2021
The aim of the study was a systematic evaluation of cognitive development in individuals with glutaric aciduria type 1 (GA1), a rare neurometabolic disorder, identified by newborn screening in Germany.
Baumgartner, Matthias R., Beblo, Skadi, Boy, Nikolas, Das, Anibh M., Dieckmann, Andrea, Freisinger, Peter, Garbade, Sven F., Grünert, Sarah C., Guder, Philipp, Haase, Claudia, Hoffmann, Georg F., Krämer, Johannes, Kölker, Stefan, Lindner, Martin, Maier, Esther M., Marquardt, Iris, Märtner, E. M. Charlotte, Mühlhausen, Chris, Näke, Andrea, Roloff, Sylvia, Rutsch, Frank, Schiergens, Katharina A., Thimm, Eva, Walter, Magdalena   +23 more
core   +1 more source

Inhibition of in vitro CO2 production and lipid synthesis by 2-hydroxybutyric acid in rat brain

Brazilian Journal of Medical and Biological Research, 2001
2-Hydroxybutyric acid appears at high concentrations in situations related to deficient energy metabolism (e.g., birth asphyxia) and also in inherited metabolic diseases affecting the central nervous system during neonatal development, such as "cerebral"
A.R. Silva, C. Ruschel, C. Helegda, A.T.S. Wyse, C.M.D. Wannmacher, M. Wajner, C.S. Dutra-Filho   +6 more
doaj   +1 more source

Not So Rare: Errors of Metabolism during the Neonatal Period

, 2003
During the neonatal period, the diagnosis of an error of metabolism (EM) was once thought to portend a poor prognosis or lethality. Over the past two decades, the prognosis of many EMs has changed.
Banta-Wright, Sandra, Steiner, Robert D.
core   +1 more source

Late‐Onset Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD): A Case Report With a Complex Biochemical Profile

JIMD Reports, Volume 66, Issue 4, July 2025.
ABSTRACT Three clinical entities of multiple acyl‐CoA dehydrogenase deficiency (MADD, OMIM#231680) can be differentiated: two severe neonatal forms and one later‐onset form that can manifest in adulthood. The latter typically presents with muscle‐related symptoms, such as exercise intolerance and muscle weakness, with an increase in all chain‐length ...
Romain Penicaud, Jean‐Baptiste Ferron, Xavier Valette, Pierrick Bauduin, Maxime Faisant, Manuel Schiff, Alexandre Nguyen, Fanny Fontaine, Stéphane Allouche   +8 more
wiley   +1 more source

Neurometabolic Diagnosis in Children who referred as Neurodevelopmental Delay (A Practical Criteria, in Iranian Pediatric Patients) [PDF]

, 2016
How to Cite This Article: Karimzadeh P, Jafari N, Nejad Biglari H, Jabbehdari J, Khayat Zadeh S, Ahmad Abadi F, Lotfi A. Neurometabolic Diagnosis in Children who referred as Neurodevelopmental Delay (A Practical Criteria, in Iranian Pediatric Patients ...
AHMAD ABADI, Farzad, JABBEHDARI, Sayena, JAFARI, Narjes, KARIMZADEH, Parvaneh, KHAYAT ZADEH, Simin, LOTFI, Azra, NEJAD BIGLARI, Habibeh   +6 more
core   +2 more sources

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