Results 51 to 60 of about 10,319 (231)

Biochemical Testing Promotes Interpretation of Variants of Uncertain Significance in Prenatal Genetic Disease Testing in Four Organic Acidurias

Clinical Genetics, Volume 109, Issue 2, Page 211-217, February 2026.
This review demonstrates how amniotic fluid biochemical testing provides critical phenotypic evidence (ACMG PP4) for reclassifying variants of uncertain significance (VUS) in prenatal organic acidurias. Integrating metabolite analysis with genetic testing enhances diagnostic accuracy and enables informed clinical decisions for affected families ...
Kaili Yin, Qingwei Qi
wiley   +1 more source

Biochemical Screening of Intellectually Disabled Patients: A Stepping Stone to Initiate a Newborn Screening Program in Pakistan

Frontiers in Neurology, 2019
Inborn errors of metabolism (IEMs) are rare group of genetic disorders comprising of more than 1,000 different types. Around 200 of IEMs are potentially treatable through diet, pharmacological and other therapies, if diagnosed earlier in life.
Muhammad Wasim, Muhammad Wasim, Haq Nawaz Khan, Haq Nawaz Khan, Hina Ayesha, Susanna M. I. Goorden, Frederic M. Vaz, Clara D. M. van Karnebeek, Fazli Rabbi Awan, Fazli Rabbi Awan   +9 more
doaj   +1 more source

From Control to Optimisation: Evolving Strategies in the Nutritional Management of Inborn Errors of Protein Metabolism

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Undoubtedly the nutritional management of inborn errors of protein metabolism (IEPM) has improved since the early 1950s, but it is still associated with significant patient burden. The pace of development has not kept up with the increasing demands of the ‘real world’ or development in other areas of medicine. It is essential that research and
Júlio César Rocha, Anne Daly, Anita MacDonald   +2 more
wiley   +1 more source

Prenatal diagnosis of combined methylmalonic acidemia and homocystinuria cobalamin C type using clinical exome sequencing and targeted gene analysis

Molecular Genetics & Genomic Medicine, 2021
Background Combined methylmalonic acidemia and homocystinuria is a rare inherited disorder of intracellular cobalamin metabolism caused by biallelic variants in one of the following genes: MMACHC (cblC), MMADHC (cblD), LMBRD1 (cblF), ABCD4 (cblJ), THAP11
Narae Hwang, Ja‐Hyun Jang, Eun‐Hae Cho, Rihwa Choi, Suk‐Joo Choi, Hyung‐Doo Park   +5 more
doaj   +1 more source

Case report: Spontaneous bilateral intraocular lens dislocation in a patient with homocystinuria

Frontiers in Cardiovascular Medicine, 2022
BackgroundSpontaneous bilateral intraocular lens dislocation of the vitreous cavity is a rare ocular disorder. This article aims to comprehensively describe bilateral spontaneous intraocular lens dislocation with unilateral lamellar macular hole and ...
Bangtao Yao, Xujian Chen, Gang Liu, Xiaogui Zhao   +3 more
doaj   +1 more source

Manifestaciones esqueléticas en la homocistinuria: a propósito de un caso [PDF]

, 1994
Se presenta el caso de una niña de 13 años con homocistinuria en la que se describen las alteraciones esqueléticas, haciendo especial énfasis en las encontradas en el raquis, donde además de osteoporosis, ensanchamientos discales no uniformes y las ...
Castejón, M., Gascó Gómez, J., Pallardó Calatayud, Yolanda   +2 more
core  

Connecting the Dots: Bridging Microsamples and Conventional Blood Matrices in Metabolic Biomarker Analysis

Analytical Science Advances, Volume 6, Issue 2, December 2025.
ABSTRACT Bridging the gap between microsampling techniques and standard blood matrices presents a groundbreaking opportunity in metabolic biomarker analysis, offering minimally invasive, patient‐centric alternatives to traditional venipuncture. This review presents the current knowledge obtained from the comparison of biomarkers analysis in liquid ...
Marlene Thaitumu, Vasiliki Gkanali, Georgios Theodoridis, Helen Gika   +3 more
wiley   +1 more source

Clinical management of homocystinuria; case report and review of the literature [PDF]

, 2012
La homocistinuria es un error congénito del metabolismo de la metionina que conduce al acúmulo de metionina y de su principal metabolito, homocisteína, en plasma, orina y tejidos.
Díaz Guardiola, Patricia, Díaz Gómez, Joaquina, Fernández-Martínez, Alberto, Gómez-Candela, Carmen, Martínez Sancho, E., Olivar Roldán, Juana   +5 more
core   +2 more sources

Uncovering Hyperhomocysteinemia: Global Risk Patterns and Molecular Disruption in Brain and Vascular Health

Journal of Neurochemistry, Volume 169, Issue 12, December 2025.
Elevated homocysteine results from genetic variants, impaired one‐carbon metabolism, nutritional deficiencies, and metabolic disorders. Hyperhomocysteinemia drives oxidative stress, inflammation, excitotoxicity, and epigenetic disruption, affecting multiple organs and systems.
Osmar Vieira Ramires Júnior, Gustavo Ricardo Krupp Prauchner, Alessandra Schmitt Rieder, Ana Karla Oliveira Leite, Clarissa Penha Farias, Angela T. S. Wyse   +5 more
wiley   +1 more source

Homocystinuria, a Possible Solution of the Akhenaten’s Mystery [PDF]

, 2010
Pharaoh Amenophis IV (Amenhotep IV), also known as Akhenaten, is the most mysterious person in Egyptian history and he still remains the object of academic argues. This revolutionary king introduced a new concept in Egyptian religion and arts.
Boris Brkljačić, Boris Olujić, Mislav Čavka, Tomislav Kelava, Vlatka Čavka, Željko Bušić   +5 more
core   +1 more source