# Metabolism and Genetic Disorders

**Type:** Topics  
**Canonical URL:** https://scholariq.org/topics/metabolism-and-genetic-disorders/

## Facts

| Field | Value |
| --- | --- |
| Description | This cluster of papers covers a wide range of topics related to metabolic disorders and biochemical genetics, including newborn screening, mitochondrial function, carnitine metabolism, phenylketonuria, tandem mass spectrometry, inborn errors of metabolism, tyrosine hydroxylase activity, and tetrahydrobiopterin biosynthesis. The papers discuss various aspects of diagnosis, management, and treatment of these disorders. |
| Domain | Life Sciences |
| Field | Biochemistry, Genetics and Molecular Biology |
| OpenAlex ID | t11027 |
| Works | 334 |

## Topic papers all

Showing 15 of 334.

- [ILAE Official Report: A practical clinical definition of epilepsy](https://scholariq.org/papers/ilae-official-report-a-practical-clinical-definition-of-epilepsy/)
- [Progressive Supranuclear Palsy](https://scholariq.org/papers/progressive-supranuclear-palsy/)
- [High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease](https://scholariq.org/papers/high-levels-of-mitochondrial-dna-deletions-in-substantia-nigra-neurons-in-aging/)
- [ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions](https://scholariq.org/papers/ilae-classification-and-definition-of-epilepsy-syndromes-with-onset-in-neonates/)
- [Oxidative damage to mitochondrial DNA shows marked age‐dependent increases in human brain](https://scholariq.org/papers/oxidative-damage-to-mitochondrial-dna-shows-marked-age-dependent-increases-in/)
- [Optimal clinical management of children receiving dietary therapies for epilepsy: Updated recommendations of the International Ketogenic Diet Study Group](https://scholariq.org/papers/optimal-clinical-management-of-children-receiving-dietary-therapies-for-epilepsy/)
- [Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia](https://scholariq.org/papers/proposed-guidelines-for-the-diagnosis-and-management-of-methylmalonic-and/)
- [Cardiovascular disease after renal transplantation.](https://scholariq.org/papers/cardiovascular-disease-after-renal-transplantation/)
- [Evidence for Intramyocardial Disruption of Lipid Metabolism and Increased Myocardial Ketone Utilization in Advanced Human Heart Failure](https://scholariq.org/papers/evidence-for-intramyocardial-disruption-of-lipid-metabolism-and-increased/)
- [Coenzyme A: Back in action](https://scholariq.org/papers/coenzyme-a-back-in-action/)
- [Suggested guidelines for the diagnosis and management of urea cycle disorders](https://scholariq.org/papers/suggested-guidelines-for-the-diagnosis-and-management-of-urea-cycle-disorders/)
- [On the Presence of 3-Hydroxytyramine in Brain](https://scholariq.org/papers/on-the-presence-of-3-hydroxytyramine-in-brain/)
- [Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy](https://scholariq.org/papers/mutant-mitochondrial-thymidine-kinase-in-mitochondrial-dna-depletion-myopathy/)
- [Optimal clinical management of children receiving the ketogenic diet: Recommendations of the International Ketogenic Diet Study Group](https://scholariq.org/papers/optimal-clinical-management-of-children-receiving-the-ketogenic-diet/)
- [Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy](https://scholariq.org/papers/hematopoietic-stem-cell-gene-therapy-for-cerebral-adrenoleukodystrophy/)

## Topic primary papers

Showing 15 of 84.

- [Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia](https://scholariq.org/papers/proposed-guidelines-for-the-diagnosis-and-management-of-methylmalonic-and/)
- [Suggested guidelines for the diagnosis and management of urea cycle disorders](https://scholariq.org/papers/suggested-guidelines-for-the-diagnosis-and-management-of-urea-cycle-disorders/)
- [On the Presence of 3-Hydroxytyramine in Brain](https://scholariq.org/papers/on-the-presence-of-3-hydroxytyramine-in-brain/)
- [Efficient direct chromosome analyses and enzyme determinations from chorionic villi samples in the first trimester of pregnancy](https://scholariq.org/papers/efficient-direct-chromosome-analyses-and-enzyme-determinations-from-chorionic/)
- [The dynamics of ammonia metabolism in man. Effects of liver disease and hyperammonemia.](https://scholariq.org/papers/the-dynamics-of-ammonia-metabolism-in-man-effects-of-liver-disease-and/)
- [HEART-LIVER TRANSPLANTATION IN A PATIENT WITH FAMILIAL HYPERCHOLESTEROLAEMIA](https://scholariq.org/papers/heart-liver-transplantation-in-a-patient-with-familial-hypercholesterolaemia/)
- [Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project](https://scholariq.org/papers/clinical-validation-of-cutoff-target-ranges-in-newborn-screening-of-metabolic/)
- [19 Pathologic fetal acidemia](https://scholariq.org/papers/19-pathologic-fetal-acidemia/)
- [Clear Correlation of Genotype with Disease Phenotype in Very–Long-Chain Acyl-CoA Dehydrogenase Deficiency](https://scholariq.org/papers/clear-correlation-of-genotype-with-disease-phenotype-in-very-long-chain-acyl-coa/)
- [How practical are recommendations for dietary control in phenylketonuria?](https://scholariq.org/papers/how-practical-are-recommendations-for-dietary-control-in-phenylketonuria/)
- [A genome-wide association study of metabolic traits in human urine](https://scholariq.org/papers/a-genome-wide-association-study-of-metabolic-traits-in-human-urine/)
- [The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation](https://scholariq.org/papers/the-phenotypic-spectrum-of-organic-acidurias-and-urea-cycle-disorders-part-1-the/)
- [Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010](https://scholariq.org/papers/neonatal-screening-in-europe-revisited-an-isns-perspective-on-the-current-state/)
- [The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype](https://scholariq.org/papers/the-phenotypic-spectrum-of-organic-acidurias-and-urea-cycle-disorders-part-2-the/)
- [Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes](https://scholariq.org/papers/biallelic-mutations-in-sord-cause-a-common-and-potentially-treatable-hereditary/)

---
Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.