Results 81 to 90 of about 5,085,322 (244)

Neurological diagnoses in children potentially fulfilling the criteria for developmental coordination disorder

Developmental Medicine &Child Neurology, EarlyView.
In children potentially fulfilling the criteria for developmental coordination disorder (DCD), phenotypical assessment does not sufficiently predict the diagnostic outcome (i.e. DCD or an alternative diagnosis). Due to the lack of distinguishing clinical and diagnostic features and the high prevalence of genetic diagnoses in these patients, additional ...
Martinica Garofalo, Fleur Vansenne, Jessika F. van Hoorn, Marina A. J. Tijssen, Dineke S. Verbeek, Deborah A. Sival   +5 more
wiley   +1 more source

Vitamin B12 in Cats: Nutrition, Metabolism, and Disease

Animals, 2023
Cobalamin is a water-soluble molecule that has an important role in cellular metabolism, especially in DNA synthesis, methylation, and mitochondrial metabolism. Cobalamin is bound by intrinsic factor (IF) and absorbed in the ileal tract.
Gerardo Siani, Beatrice Mercaldo, Maria Chiara Alterisio, Antonio Di Loria   +3 more
doaj   +1 more source

Population Reference Values for Serum Methylmalonic Acid Concentrations and Its Relationship with Age, Sex, Race-Ethnicity, Supplement Use, Kidney Function and Serum Vitamin B12 in the Post-Folic Acid Fortification Period

Nutrients, 2018
Serum methylmalonic acid (MMA) is elevated in vitamin B-12 deficiency and in kidney dysfunction. Population reference values for serum MMA concentrations in post-folic acid fortification period are lacking.
V. Ganji, Mohammad R Kafai
semanticscholar   +1 more source

An eye on long‐duration spaceflight: Controversies, countermeasures and challenges

Experimental Physiology, EarlyView.
Abstract Space flight‐associated neuroocular syndrome (SANS) is a consequence of long‐duration space flight and is detected in two‐thirds of astronauts. In‐flight, this can cause a change in the refraction of the eyes, requiring graded hypermetropic ‘superfocus adjustable’ glasses, optic nerve head oedema and choroidal folds.
Vincent Wing Sum Ng, Susan Patricia Mollan   +1 more
wiley   +1 more source

Cyclic β-glucans at the bacteria–host cells interphase: One sugar ring to rule them all [PDF]

, 2018
Cyclic β‐1,2‐D‐glucans (CβG) are natural bionanopolymers present in the periplasmic space of many Proteobacteria. These molecules are sugar rings made of 17 to 25 D‐glucose units linked exclusively by β‐1,2‐glycosidic bonds.
Arce Gorvel, Vilma, Ciocchini, Andres Eduardo, Comerci, Diego José, Gorvel, Jean-Pierre, Guidolin, Leticia Soledad   +4 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

Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle

BMC Medical Genetics, 2007
Background Mutations in methylmalonyl-CoA mutase cause methylmalonic acidemia, a common organic aciduria. Current treatment regimens rely on dietary management and, in severely affected patients, liver or combined liver-kidney transplantation.
Kaestner Klaus H, Allen Robert, Stabler Sally, Tsai Matthew, Fu Hong, Sloan Jennifer, Chandler Randy J, Kazazian Haig H, Venditti Charles P   +8 more
doaj   +1 more source

Propionic Acidemia: Gray Matter Disease Meets Subcortical Leukodystrophy

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Imaging literature on propionic acidemia (PA) is predominantly concerned with deep gray matter changes. In order to investigate the spectrum and patterns of MRI changes, 45 MRI scans of 13 patients (0.31–33.2 years) were systematically analyzed. Deep and cortical gray matter changes were associated with acute metabolic decompensation. Striatum
Hannah Fels‐Palesandro, Friederike Hörster, Dorothea Haas, Florian Gleich, Sven F. Garbade, Stefan Kölker, Inga Harting   +6 more
wiley   +1 more source

Perinatal Gene Transfer to the Liver [PDF]

, 2011
The liver acts as a host to many functions hence raising the possibility that any one may be compromised by a single gene defect. Inherited or de novo mutations in these genes may result in relatively mild diseases or be so devastating that death within
Buckley, SM, Chan, JK, Howe, SJ, McKay, TR, Rahim, AA, Waddington, SN, Ward, NJ   +6 more
core   +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