Write in a clean editor, then format for Molecular Genetics and Metabolism Reports in one click — DocuGuru applies the official Elsevier template with numbered references and exports a submission-ready PDF plus the editable LaTeX source. Free to start.
Molecular Genetics and Metabolism Reports is a peer-reviewed journal published by Elsevier, covering Metabolism and Genetic Disorders, Lysosomal Storage Disorders Research, Mitochondrial Function and Pathology.
| Publisher | Elsevier |
|---|---|
| Reference style | Numbered (Elsevier) Numbered — [1], [2] in the text [1] A. Smith, B. Jones, C. Lee, A representative article title, Molecular Genetics and Metabolism Reports 12 (2023) 45–58.
Formats any DOI in Molecular Genetics and Metabolism Reports style. No sign-up. |
| Publishes research in | Metabolism and Genetic Disorders Lysosomal Storage Disorders Research Mitochondrial Function and Pathology Glycogen Storage Diseases and Myoclonus Trypanosoma species research and implications |
| ISSN | 2214-4269 |
| Citation impact (2-yr) | 1.23 |
| h-index | 40 |
| i10-index | 476 |
| Total citations | 13,274 |
| Article processing charge | $1,750 |
| Open access | Yes |
| Top institutions publishing here | Krankenanstalt Rudolfstiftung der Stadt Wien |
| Journal website | www.journals.elsevier.com |
| You get | A submission-ready PDF and the editable LaTeX source — ready to submit. |
Citations each year’s papers have accumulated so far — the most recent years are still building up.
We report the practical, social and psychological issues of living with phenylketonuria (PKU) from one of the largest surveys that has been completed by both adults with PKU and parents/caregivers of children. In the UK, parents/caregivers of children and adults with PKU were invited to complete an online survey between November 2017 to January 2018…
BACKGROUND: Expanded newborn screening (ENBS) utilizing tandem mass spectrometry (MS/MS) for inborn metabolic diseases (IMDs), such as organic acidemias (OAs), fatty acid oxidation disorders, (FAODs), and amino acid disorders (AAs), is increasingly popular but has not yet been introduced in many Asian countries. This study aimed to determine the incidence rates of OAs, FAODs, and…
Outcomes from 5 years of treatment with agalsidase alfa enzyme replacement therapy (ERT) for Fabry disease in patients enrolled in the Fabry Outcome Survey (FOS) were compared with published findings for untreated patients with Fabry disease. Data were extracted from FOS, a Shire-sponsored database, for comparison with data from three published studies. Outcomes evaluated were…
= 111; response rate 94%) were asked to complete a structured questionnaire. Patients appeared to have an altered perception and awareness of the disease. About 40% of them did not consider PKU a disease and, despite declaring regular monitoring of phenylalanine levels (85%), nearly half of them reported a high plasma value over the last…
Phenylketonuria (PKU) is a rare metabolic disorder characterized by impaired conversion of phenylalanine (Phe) to tyrosine. If left untreated, the resultant accumulation of excess blood Phe can cause physiological, neurological, and intellectual disabilities. The National PKU Alliance (NPKUA) conducted a survey of its membership to assess current health status and interest in new treatments for…
