# Journal of Inherited Metabolic Disease

**Type:** Journals  
**Canonical URL:** https://scholariq.org/journals/journal-of-inherited-metabolic-disease/

## Facts

| Field | Value |
| --- | --- |
| Open Access | false |
| ISSN-L | 0141-8955 |
| ISSNs | 0141-8955,1573-2665 |
| OpenAlex ID | https://openalex.org/S186577254 |
| Publisher | Springer Science+Business Media |

## Journal papers

Showing 12 of 16.

- [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/)
- [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/)
- [Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo‐controlled study](https://scholariq.org/papers/efficacy-and-safety-of-enzyme-replacement-therapy-with-bmn-110-elosulfase-alfa/)
- [Anaesthesia and airway management in mucopolysaccharidosis](https://scholariq.org/papers/anaesthesia-and-airway-management-in-mucopolysaccharidosis/)
- [Study of <i>LPIN1</i>, <i>LPIN2</i> and <i>LPIN3</i> in rhabdomyolysis and exercise‐induced myalgia](https://scholariq.org/papers/study-of-i-lpin1-i-i-lpin2-i-and-i-lpin3-i-in-rhabdomyolysis-and-exercise/)
- [Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the<scp>MNGIE</scp>International Network](https://scholariq.org/papers/mitochondrial-neurogastrointestinal-encephalomyopathy-mngie-position-paper-on/)
- [Mitochondrial DNA mutation analysis from exome sequencing—A more holistic approach in diagnostics of suspected mitochondrial disease](https://scholariq.org/papers/mitochondrial-dna-mutation-analysis-from-exome-sequencing-a-more-holistic/)
- [Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: Data from the E‐HOD registry](https://scholariq.org/papers/phenotype-treatment-practice-and-outcome-in-the-cobalamin-dependent/)
- [Quality of life and participation in daily life of adults with Pompe disease receiving enzyme replacement therapy: 10 years of international follow‐up](https://scholariq.org/papers/quality-of-life-and-participation-in-daily-life-of-adults-with-pompe-disease/)
- [Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder](https://scholariq.org/papers/glycogen-storage-disease-type-iv-novel-mutations-and-molecular-characterization/)
- [Newborn screening for homocystinurias: Recent recommendations versus current practice](https://scholariq.org/papers/newborn-screening-for-homocystinurias-recent-recommendations-versus-current/)
- [A patient with severe type of epimerase deficiency galactosaemia](https://scholariq.org/papers/a-patient-with-severe-type-of-epimerase-deficiency-galactosaemia/)

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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.