4.1(top 10%)
impact factor
5.7K(top 5%)
papers
140.1K(top 5%)
citations
125(top 5%)
h-index
4.4(top 10%)
impact factor
6.6K
all documents
147.4K
doc citations
174(top 5%)
g-index

Top Articles

#TitleJournalYearCitations
1A general introduction to the biochemistry of mitochondrial fatty acid β‐oxidationJournal of Inherited Metabolic Disease2010678
2Blood–brain barrier structure and function and the challenges for CNS drug deliveryJournal of Inherited Metabolic Disease2013656
3Long-term prognosis in galactosaemia: Results of a survey of 350 casesJournal of Inherited Metabolic Disease1990483
4Tandem mass spectrometry: A new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolismJournal of Inherited Metabolic Disease1990476
5Choline and betaine in health and diseaseJournal of Inherited Metabolic Disease2011438
6Mitochondrial ATP synthase: architecture, function and pathologyJournal of Inherited Metabolic Disease2012412
7Dealing with methionine/homocysteine sulfur: cysteine metabolism to taurine and inorganic sulfurJournal of Inherited Metabolic Disease2011366
8B6-responsive disorders: A model of vitamin dependencyJournal of Inherited Metabolic Disease2006364
9Overview of homocysteine and folate metabolism. With special references to cardiovascular disease and neural tube defectsJournal of Inherited Metabolic Disease2011340
10Cumulative incidence rates of the mucopolysaccharidoses in GermanyJournal of Inherited Metabolic Disease2005330
11Diagnosis and management of glutaric aciduria type I – revised recommendationsJournal of Inherited Metabolic Disease2011327
12Valproic acid metabolism and its effects on mitochondrial fatty acid oxidation: A reviewJournal of Inherited Metabolic Disease2008304
13Sanfilippo syndrome: A mini‐reviewJournal of Inherited Metabolic Disease2008303
14Genetic bases and clinical manifestations of coenzyme Q10 (CoQ10) deficiencyJournal of Inherited Metabolic Disease2015301
15Recognition and management of fatty acid oxidation defects: A series of 107 patientsJournal of Inherited Metabolic Disease1999295
16Fabry disease: Baseline medical characteristics of a cohort of 1765 males and females in the Fabry RegistryJournal of Inherited Metabolic Disease2007291
17International Morquio A Registry: Clinical manifestation and natural course of Morquio A diseaseJournal of Inherited Metabolic Disease2007278
18Suggested guidelines for the diagnosis and management of urea cycle disorders: First revisionJournal of Inherited Metabolic Disease2019277
19The biochemistry, metabolism and inherited defects of the pentose phosphate pathway: A reviewJournal of Inherited Metabolic Disease2008260
20Homocysteine metabolism, hyperhomocysteinaemia and vascular disease: An overviewJournal of Inherited Metabolic Disease2006254
21Classical galactosaemia revisitedJournal of Inherited Metabolic Disease2006252
22Cerebral ketone body metabolismJournal of Inherited Metabolic Disease2005246
23Disorders of mitochondrial fatty acyl‐CoA β‐oxidationJournal of Inherited Metabolic Disease1999243
24Cobalamin C defect: natural history, pathophysiology, and treatmentJournal of Inherited Metabolic Disease2011242
25Mitochondrial complex I: Structure, function and pathologyJournal of Inherited Metabolic Disease2006239
26Tyrosinaemia type I and NTBC (2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione)Journal of Inherited Metabolic Disease1998238
27Anderson–Fabry disease: Clinical manifestations of disease in female heterozygotesJournal of Inherited Metabolic Disease2001237
28Neuropsychological outcomes of several storage diseases with and without bone marrow transplantationJournal of Inherited Metabolic Disease1995230
29Guidelines for the diagnosis and management of cystathionine beta‐synthase deficiencyJournal of Inherited Metabolic Disease2017229
30Vitamin B12, folate, and the methionine remethylation cycle—biochemistry, pathways, and regulationJournal of Inherited Metabolic Disease2019228
31Progress in understanding 2‐hydroxyglutaric aciduriasJournal of Inherited Metabolic Disease2012226
32Storage policies and use of the Danish Newborn Screening BiobankJournal of Inherited Metabolic Disease2007224
33Ammonia toxicity to the brainJournal of Inherited Metabolic Disease2013224
34The incidence of inherited porphyrias in EuropeJournal of Inherited Metabolic Disease2013220
35Sustained therapeutic effects of oral miglustat (Zavesca, N -butyldeoxynojirimycin, OGT 918) in type I Gaucher diseaseJournal of Inherited Metabolic Disease2004218
36The role of the iminosugar N -butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: A position statementJournal of Inherited Metabolic Disease2003217
37Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and managementJournal of Inherited Metabolic Disease2011217
38Folate and cancer: how DNA damage, repair and methylation impact on colon carcinogenesisJournal of Inherited Metabolic Disease2011214
39Complex lipid trafficking in Niemann‐Pick disease type CJournal of Inherited Metabolic Disease2015213
40Mitochondrial disorders: Prevalence, myths and advancesJournal of Inherited Metabolic Disease2004211
41Adrenoleukodystrophy: Phenotypic variability and implications for therapyJournal of Inherited Metabolic Disease1992207
42Guidelines for diagnosis and management of the cobalamin‐related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiencyJournal of Inherited Metabolic Disease2017206
43Neonatal screening in Europe; the situation in 2004Journal of Inherited Metabolic Disease2007204
44The natural history of vascular disease in homocystinuria and the effects of treatmentJournal of Inherited Metabolic Disease1997202
45The pathogenesis and treatment of acid sphingomyelinase‐deficient Niemann–Pick diseaseJournal of Inherited Metabolic Disease2007202
46Inherited disorders of GABA metabolismJournal of Inherited Metabolic Disease1993200
47‘Classical’ organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: Long-term outcome and effects of expanded newborn screening using tandem mass spectrometryJournal of Inherited Metabolic Disease2006199
48The tandem mass spectrometry newborn screening experience in North Carolina: 1997–2005Journal of Inherited Metabolic Disease2006195
49Brown‐Vialetto‐Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatmentJournal of Inherited Metabolic Disease2011194
50Enzyme replacement and enhancement therapies for lysosomal diseasesJournal of Inherited Metabolic Disease2004191