Inherited Disorders of Neurotransmitters: Classification and Practical Approaches for Diagnosis and Treatment.
Sign Up to like & getrecommendations! Published in 2019 at "Neuropediatrics"
DOI: 10.1055/s-0038-1673630
Abstract: Neurotransmitter deficiencies are rare neurological disorders with clinical onset during childhood. The disorders are caused by genetic defects in the enzymes involved in synthesis, degradation, or transport of neurotransmitters or by defects in the cofactor… read more here.
Keywords: inherited disorders; diagnosis; treatment; disorders neurotransmitters ... See more keywords
Inherited disorders of tubular transport.
Sign Up to like & getrecommendations! Published in 2017 at "Current Opinion in Pediatrics"
DOI: 10.1097/mop.0000000000000461
Abstract: DOI:10.1097/MOP.0000000000000461 I would like to introduce this year’s nephrology section of Current Opinion in Pediatrics with a case that I saw many years ago. The patient was a 15-yearold female who had a 5-year history… read more here.
Keywords: disorders tubular; tubular transport; inherited disorders; proximal tubule ... See more keywords
Couple screening for recessively inherited disorders
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Medical Screening"
DOI: 10.1177/09691413221137039
Abstract: Couple screening aims to identify couples with an increased risk of having a child affected with an autosomal recessive or X-linked disorder, in order to facilitate informed reproductive decision making. Both expectant parents should be… read more here.
Keywords: screening recessively; inherited disorders; recessively inherited; couple screening ... See more keywords
Recent advances in understanding inherited disorders of keratinization
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DOI: 10.12688/f1000research.14514.1
Abstract: The ichthyoses are a heterogeneous group of skin diseases characterized by localized or generalized scaling or both. Other common manifestations include palmoplantar keratoderma, erythroderma, recurrent infections, and hypohidrosis. Abnormal barrier function is a cardinal feature… read more here.
Keywords: understanding inherited; barrier; inherited disorders; advances understanding ... See more keywords
Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism
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DOI: 10.3390/genes14020263
Abstract: Inherited disorders of biogenic amine metabolism are genetically determined conditions resulting in dysfunctions or lack of enzymes involved in the synthesis, degradation, or transport of dopamine, serotonin, adrenaline/noradrenaline, and their metabolites or defects of their… read more here.
Keywords: metabolism; biogenic amine; disorders biogenic; genotypes inherited ... See more keywords