Results 51 to 60 of about 5,966 (238)

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Phenotypic Heterogeneity in Genetic and Acquired Pediatric Cerebellar Disorders

Movement Disorders, EarlyView.
Abstract Background The genetic landscape of pediatric cerebellar disorders (PCDs) in Finland is undefined. Objectives The objective was to define epidemiological, clinical, neuroradiological, and genetic characteristics of PCDs in Northern Finland.
Katariina Granath, Sanna Huhtaniska, Juulia Ellonen, Tytti Pokka, Salla M. Kangas, Jukka Moilanen, Heli Helander, Hanna Kallankari, Jonna Komulainen‐Ebrahim, Päivi Vieira, Elisa Rahikkala, Renzo Guerrini, Minna Honkila, Terhi S. Ruuska, Reetta Hinttala, Maria Suo‐Palosaari, Jussi‐Pekka Tolonen, Johanna Uusimaa   +17 more
wiley   +1 more source

N‐lactoyl amino acids are potential biomarkers for insulin resistance and diabetic complications

Diabetes, Obesity and Metabolism, EarlyView.
Abstract Aims N‐lactoyl amino acids (Lac‐AA) are emerging as crucial players in metabolic research, with potential implications for disease mechanisms and therapeutic interventions. This study exploress the role of Lac‐AA in insulin resistance, type 2 diabetes (T2D), and its complications.
Khaled Naja, Asma A. Elashi, Najeha Anwardeen, Aleem Razzaq, Laila Hedaya, Shamma Almuraikhy, Ilhame Diboun, Karsten Suhre, Omar AlBagha, Mohamed A. Elrayess   +9 more
wiley   +1 more source

Delivering the Message: Translating mRNA Therapy for Liver Inherited Metabolic Diseases

Journal of Inherited Metabolic Disease, Volume 48, Issue 5, September 2025.
ABSTRACT mRNA encapsulated in lipid nanoparticles (LNPs) provides a dual revolution in the field of gene therapy. mRNA brings fleeting efficacy and the possibility to adjust the therapy to clinical needs. LNP, as a non‐viral vehicle with flexible organ‐targeting, overcomes most immune complications of viral gene therapy. mRNA‐LNP has rapidly progressed
Sonam Gurung, Dany Perocheau, Roopkatha Ghosh, Stephen L. Hart, Julien Baruteau   +4 more
wiley   +1 more source

Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity

Orphanet Journal of Rare Diseases, 2020
Background Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disease caused by deficient activity of the branched-chain α-keto acid dehydrogenase (BCKD) enzymatic complex.
Ana Vitoria Barban Margutti, Wilson Araújo Silva, Daniel Fantozzi Garcia, Greice Andreotti de Molfetta, Adriana Aparecida Marques, Tatiana Amorim, Vânia Mesquita Gadelha Prazeres, Raquel Tavares Boy da Silva, Irene Kazue Miura, João Seda Neto, Emerson de Santana Santos, Mara Lúcia Schmitz Ferreira Santos, Charles Marques Lourenço, Tássia Tonon, Fernanda Sperb-Ludwig, Carolina Fischinger Moura de Souza, Ida Vanessa Döederlein Schwartz, José Simon Camelo   +17 more
doaj   +1 more source

Pre‐school neurocognitive and functional outcomes after liver transplant in children with early onset urea cycle disorders, maple syrup urine disease, and propionic acidemia: An inception cohort matched‐comparison study

JIMD Reports, 2020
Urea cycle disorders (UCD) and organic acid disorders classically present in the neonatal period. In those who survive, developmental delay is common with continued risk of regression.
Shailly Jain‐Ghai, A. Joffe, Gwen Bond, K. Siriwardena, A. Chan, J. Yap, Morteza Hajihosseini, I. Dinu, Bryan V. Acton, C. Robertson   +9 more
semanticscholar   +1 more source

Brain Magnetic Resonance Imaging of Children With Molybdenum Cofactor Deficiency

Journal of Inherited Metabolic Disease, Volume 48, Issue 5, September 2025.
ABSTRACT Molybdenum cofactor deficiency (MoCD) is a rare differential diagnosis of neonatal hypoxic ischemic encephalopathy (HIE) with considerable variation in presentation and treatment outcomes. The temporospatial evolution of brain MRI appearances has not been well described.
B. C. Schwahn, R. Sinha, J. A. M. Wright, J. Pavaine   +3 more
wiley   +1 more source

Maple syrup urine disease in Brazil: a panorama of the last two decades

Jornal de Pediatria (Versão em Português), 2015
Objective: To characterize a sample of Brazilian patients with maple syrup urine disease (MSUD) diagnosed between 1992 and 2011. Methods: In this retrospective study, patients were identified through a national reference laboratory for the diagnosis of ...
Silvani Herber, Ida Vanessa D. Schwartz, Tatiéle Nalin, Cristina Brinkmann Oliveira Netto, José Simon Camelo Junior, Mara Lúcia Santos, Erlane Marques Ribeiro, Lavinia Schüler‐Faccini, Carolina Fischinger Moura de Souza   +8 more
doaj   +5 more sources

Maple Syrup Urine Disease with Concomitant Congenital Adrenal Hyperplasia in a Setting of Consanguineous Marriage.

Journal of Rawalpindi Medical College, 2018
Consanguineous marriage is deeply embedded in the fabric of South-East Asian society. Maple Syrup Urine Disease (MSUD) and congential adrenal hyperplasia (CAH) are autosomal recessive diseases, with an increased risk of transmission amongst progeny of ...
Hafiz Armaghan Saeed et al.,
doaj  

Electrochemical (Bio)Sensing of Maple Syrup Urine Disease Biomarkers Pointing to Early Diagnosis: A Review

Applied Sciences, 2020
Metabolic errors are inherited diseases, where genetic defects prevent a metabolic path, ending up in enzyme malfunction. In correspondence to its remaining or plenitude fall of enzymatic potency, there is an amassment of dangerous metabolites near the ...
Sophia Karastogianni, S. Girousi
semanticscholar   +1 more source