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Molecular Genetics and Metabolism Reports

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DOIs for this ISSN

Showing the top 5 of 1322 DOIs, ordered by correction priority.

# Title Missing Priority Citations
1 The effect of enzyme replacement therapy on clinical outcome… (10.1016/j.ymgmr.2019.100454)
Abstract ORCID
94.88 78
2 Long-term effectiveness of agalsidase alfa enzyme replacemen… (10.1016/j.ymgmr.2015.02.002)
Abstract ORCID
94.04 75
3 Living with phenylketonuria in adulthood: The PKU ATTITUDE s… (10.1016/j.ymgmr.2018.06.007)
Abstract ORCID
88.17 57
4 Enzymatic replacement therapy for Hunter disease: Up to 9 ye… (10.1016/j.ymgmr.2015.03.011)
Abstract ORCID
87.79 56
5 Phenylketonuria (PKU): A problem solved? (10.1016/j.ymgmr.2015.12.004)
Abstract ORCID
86.21 52
6 Sequencing analysis of insulin receptor defects and detectio… (10.1016/j.ymgmr.2013.12.006)
Abstract ORCID
82.66 44
7 Human GLB1 knockout cerebral organoids: A model system for t… (10.1016/j.ymgmr.2019.100513)
Abstract ORCID
80.10 39
8 Incidence of maple syrup urine disease, propionic acidemia,… (10.1016/j.ymgmr.2018.03.011)
Abstract ORCID
78.99 37
9 Impact of enzyme replacement therapy and hematopoietic stem… (10.1016/j.ymgmr.2014.04.001)
Abstract ORCID
77.82 35
10 Next generation sequencing for clinical diagnostics: Five ye… (10.1016/j.ymgmr.2019.100464)
Abstract ORCID
77.20 34
11 Newborn screening for Fabry disease in the western region of… (10.1016/j.ymgmr.2019.100562)
Abstract ORCID
75.93 32
12 Holocarboxylase synthetase deficiency pre and post newborn s… (10.1016/j.ymgmr.2016.03.007)
Abstract ORCID
75.26 31
13 Resveratrol attenuates triglyceride accumulation associated… (10.1016/j.ymgmr.2017.05.003)
Abstract ORCID
75.26 31
14 Medium-chain triglyceride supplementation under a low-carboh… (10.1016/j.ymgmr.2013.12.002)
Abstract ORCID
72.36 27
15 Thiamine pyrophosphokinase deficiency causes a Leigh Disease… (10.1016/j.ymgmr.2013.12.007)
Abstract ORCID
71.57 26
16 Overweight and obesity in PKU: The results from 8 centres in… (10.1016/j.ymgmr.2014.11.003)
Abstract ORCID
71.57 26
17 Barriers to drug adherence in the treatment of urea cycle di… (10.1016/j.ymgmr.2016.07.003)
Abstract ORCID
70.75 25
18 The diagnostic journey of patients with mucopolysaccharidosi… (10.1016/j.ymgmr.2016.07.006)
Abstract ORCID
70.75 25
19 Marked elevation in plasma trimethylamine-N-oxide (TMAO) in… (10.1016/j.ymgmr.2018.04.005)
Abstract ORCID
70.75 25
20 Characterization of immune response in Cross-Reactive Immuno… (10.1016/j.ymgmr.2019.100475)
Abstract ORCID
70.75 25
21 Long-term cognitive functioning in individuals with tyrosine… (10.1016/j.ymgmr.2017.01.016)
Abstract ORCID
69.90 24
22 Characteristics of 26 patients with type 3 Gaucher disease:… (10.1016/j.ymgmr.2017.10.011)
Abstract ORCID
69.90 24
23 Molecular based newborn screening in Germany: Follow-up for… (10.1016/j.ymgmr.2019.100514)
Abstract ORCID
69.90 24
24 Clinical and biochemical characterization of 3-hydroxyisobut… (10.1016/j.ymgmr.2014.10.003)
Abstract ORCID
69.01 23
25 Clinical relevance of the discrepancy in phenylalanine conce… (10.1016/j.ymgmr.2016.01.001)
Abstract ORCID
69.01 23
26 The personal burden for caregivers of children with phenylke… (10.1016/j.ymgmr.2016.08.008)
Abstract ORCID
69.01 23
27 Carrier frequency and predicted genetic prevalence of Pompe… (10.1016/j.ymgmr.2021.100734)
Abstract ORCID
69.01 23
28 Newborn screening for Pompe disease in Italy: Long-term resu… (10.1016/j.ymgmr.2022.100929)
Abstract ORCID
69.01 23
29 Insights in the etiopathology of galactosyltransferase II (G… (10.1016/j.ymgmr.2014.11.005)
Abstract ORCID
68.09 22
30 Diagnosis of a mild peroxisomal phenotype with next-generati… (10.1016/j.ymgmr.2016.10.006)
Abstract ORCID
68.09 22
31 Early hematopoietic stem cell transplantation in a patient w… (10.1016/j.ymgmr.2017.05.010)
Abstract ORCID
68.09 22
32 The impact of consanguinity on the frequency of inborn error… (10.1016/j.ymgmr.2017.11.004)
Abstract ORCID
68.09 22
33 Fabry disease in a Japanese population-molecular and biochem… (10.1016/j.ymgmr.2018.10.004)
Abstract ORCID
68.09 22
34 Earlier and higher dosing of alglucosidase alfa improve outc… (10.1016/j.ymgmr.2020.100591)
Abstract ORCID
68.09 22
35 SLC35A2-CDG: Novel variant and review (10.1016/j.ymgmr.2021.100717)
Abstract ORCID
68.09 22
36 Long-term follow-up of renal function in patients treated wi… (10.1016/j.ymgmr.2021.100786)
Abstract ORCID
68.09 22
37 Newborn screening for congenital adrenal hyperplasia in New… (10.1016/j.ymgmr.2016.02.005)
Abstract ORCID
67.12 21
38 Long-term galsulfase enzyme replacement therapy in Taiwanese… (10.1016/j.ymgmr.2016.04.003)
Abstract ORCID
67.12 21
39 Benefits of prophylactic heme therapy in severe acute interm… (10.1016/j.ymgmr.2019.01.002)
Abstract ORCID
67.12 21
40 Early clinical signs and treatment of Menkes disease (10.1016/j.ymgmr.2022.100849)
Abstract ORCID
67.12 21
41 Growth charts for patients with Hunter syndrome (10.1016/j.ymgmr.2013.10.001)
Abstract ORCID
66.11 20
42 Muscle imaging data in late-onset Pompe disease reveal a cor… (10.1016/j.ymgmr.2015.03.010)
Abstract ORCID
66.11 20
43 Enzyme replacement therapy attenuates disease progression in… (10.1016/j.ymgmr.2017.08.007)
Abstract ORCID
66.11 20
44 Fourteen new mutations of BCKDHA, BCKDHB and DBT genes assoc… (10.1016/j.ymgmr.2018.08.006)
Abstract ORCID
66.11 20
45 The financial and time burden associated with phenylketonuri… (10.1016/j.ymgmr.2019.100523)
Abstract ORCID
66.11 20
46 Infectious and digestive complications in glycogen storage d… (10.1016/j.ymgmr.2020.100581)
Abstract ORCID
66.11 20
47 Diagnosis, genetic characterization and clinical follow up o… (10.1016/j.ymgmr.2020.100632)
Abstract ORCID
66.11 20
48 Effect of Ambroxol chaperone therapy on Glucosylsphingosine… (10.1016/j.ymgmr.2019.100476)
Abstract ORCID
65.05 19
49 Disease progression of alpha-mannosidosis and impact on pati… (10.1016/j.ymgmr.2019.100480)
Abstract ORCID
65.05 19
50 α-Gal A missense variants associated with Fabry disease can… (10.1016/j.ymgmr.2022.100926)
Abstract ORCID
65.05 19