# Molecular Genetics and Metabolism

**Type:** Journals  
**Canonical URL:** https://scholariq.org/journals/molecular-genetics-and-metabolism/

## Facts

| Field | Value |
| --- | --- |
| Open Access | false |
| ISSN-L | 1096-7192 |
| ISSNs | 1096-7192,1096-7206 |
| OpenAlex ID | https://openalex.org/S42433034 |
| Publisher | Elsevier BV |

## Journal papers

Showing 12 of 16.

- [Fabry disease revisited: Management and treatment recommendations for adult patients](https://scholariq.org/papers/fabry-disease-revisited-management-and-treatment-recommendations-for-adult/)
- [A Common Variant in Methionine Synthase Reductase Combined with Low Cobalamin (Vitamin B12) Increases Risk for Spina Bifida](https://scholariq.org/papers/a-common-variant-in-methionine-synthase-reductase-combined-with-low-cobalamin/)
- [Prevalence of comorbid conditions among adult patients diagnosed with phenylketonuria](https://scholariq.org/papers/prevalence-of-comorbid-conditions-among-adult-patients-diagnosed-with/)
- [A novel homozygous missense mutation of the leptin gene (N103K) in an obese Egyptian patient](https://scholariq.org/papers/a-novel-homozygous-missense-mutation-of-the-leptin-gene-n103k-in-an-obese/)
- [Expanded newborn screening identifies maternal primary carnitine deficiency](https://scholariq.org/papers/expanded-newborn-screening-identifies-maternal-primary-carnitine-deficiency/)
- [Phase 2 comparison of a novel ammonia scavenging agent with sodium phenylbutyrate in patients with urea cycle disorders: Safety, pharmacokinetics and ammonia control](https://scholariq.org/papers/phase-2-comparison-of-a-novel-ammonia-scavenging-agent-with-sodium/)
- [Homozygosity for a novel missense mutation in the leptin receptor gene (P316T) in two Egyptian cousins with severe early onset obesity](https://scholariq.org/papers/homozygosity-for-a-novel-missense-mutation-in-the-leptin-receptor-gene-p316t-in/)
- [Ammonia control in children with urea cycle disorders (UCDs); Phase 2 comparison of sodium phenylbutyrate and glycerol phenylbutyrate](https://scholariq.org/papers/ammonia-control-in-children-with-urea-cycle-disorders-ucds-phase-2-comparison-of/)
- [Clinical and biochemical outcome after hydroxocobalamin dose escalation in a series of patients with cobalamin C deficiency](https://scholariq.org/papers/clinical-and-biochemical-outcome-after-hydroxocobalamin-dose-escalation-in-a/)
- [Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease](https://scholariq.org/papers/application-of-n-palmitoyl-o-phosphocholineserine-for-diagnosis-and-assessment/)
- [The impact of informal care for patients with Pompe disease: An application of the CarerQol instrument](https://scholariq.org/papers/the-impact-of-informal-care-for-patients-with-pompe-disease-an-application-of/)
- [A novel mutation in the SLC25A15 gene in a Turkish patient with HHH syndrome: Functional analysis of the mutant protein](https://scholariq.org/papers/a-novel-mutation-in-the-slc25a15-gene-in-a-turkish-patient-with-hhh-syndrome/)

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