Contribution of Genetic Test to Early Diagnosis of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency: The Experience of a Reference Center in Southern Italy [PDF]
, 2023 Background: the deficiency of 5,10-Methylenetetrahydrofolate reductase (MTHFR) constitutes a rare and severe metabolic disease and is included in most expanded newborn screening (NBS) programs worldwide.
Giovanna Gallo +33 more
core +1 more source
Genetics of Coenzyme Q10 Deficiency [PDF]
Molecular Syndromology, 2014 Coenzyme Q10 (CoQ10) is an essential component of eukaryotic cells and is involved in crucial biochemical reactions such as the production of ATP in the mitochondrial respiratory chain, the biosynthesis of pyrimidines, and the modulation of apoptosis. CoQ10 requires at least 13 genes for its biosynthesis.
DOIMO, MARA +5 more
openaire +2 more sources
Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency [PDF]
, 2009 Context: Familial glucocorticoid deficiency (FGD) is an autosomal recessive disorder resulting from resistance to the action of ACTH on the adrenal cortex.
Racine, M +50 more
core +1 more source
Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient
Molecular Genetics & Genomic Medicine, 2021 Background Biotinidase deficiency (OMIM 253260) is an autosomal recessively inherited disorder affecting about 1/60,000 people worldwide. The absence or deficiency of biotinidase impairs free biotin recycling and affects biotin‐dependent carboxylase ...
Jia Geng +10 more
doaj +1 more source
Severe high-molecular-weight kininogen deficiency: clinical characteristics, deficiency–causing KNG1 variants, and estimated prevalence [PDF]
, 2023 Background: Severe high-molecular-weight kininogen (HK) deficiency is a poorly studied autosomal recessive contact system defect caused by pathogenic, biallelic KNG1 variants. Aim: We performed the first comprehensive analysis of diagnostic, clinical,
Alesci, Sonja +35 more
core +2 more sources
SMAD6-deficiency in human genetic disorders
npj Genomic Medicine, 2022 SMAD6 encodes an intracellular inhibitor of the bone morphogenetic protein (BMP) signalling pathway. Until now, SMAD6-deficiency has been associated with three distinctive human congenital conditions, i.e., congenital heart diseases, including left ...
Ilse Luyckx +3 more
doaj +1 more source
Genetic-molecular characterization in the diagnosis of primary immunodeficiencies
Jornal de Pediatria, 2021 Objectives: To rescue medical genetics concepts that are necessary to understand the advances in the genetic-molecular characterization of primary immunodeficiencies, to help in the understanding and adequate interpretation of their results.
Gesmar Rodrigues Silva Segundo
doaj +1 more source
Lung function in the general population : the complex interplay of variants in "Serpina1" and other genes with the environment [PDF]
, 2013 Background. One of the globally most frequent health problems are obstructive lung diseases such as asthma and chronic obstructive pulmonary disease.
Thun, Gian Andri
core +1 more source
Genetic models of vasopressin deficiency [PDF]
Experimental Physiology, 2000 Animal models of genetic hormone deficiency are useful as models for physiological studies of hormone deficiency and hormone action. Structure—function studies of the specific underlying gene defect may help in understanding mechanisms regulating gene expression and secretion of the peptide product. Spontaneous genetic models of vasopressin deficiency,
openaire +2 more sources
Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2 [PDF]
, 2010 Context: Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder as a result of mutation in genes encoding either the ACTH receptor [melanocortin 2 receptor (MC2R)] or its accessory protein [melanocortin 2 receptor accessory ...
Metherell, LA +5 more
core +1 more source