# | Title | Journal | Year | Citations |
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1 | A general introduction to the biochemistry of mitochondrial fatty acid β‐oxidation | Journal of Inherited Metabolic Disease | 2010 | 678 |
2 | Blood–brain barrier structure and function and the challenges for CNS drug delivery | Journal of Inherited Metabolic Disease | 2013 | 656 |
3 | Long-term prognosis in galactosaemia: Results of a survey of 350 cases | Journal of Inherited Metabolic Disease | 1990 | 483 |
4 | Tandem mass spectrometry: A new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism | Journal of Inherited Metabolic Disease | 1990 | 476 |
5 | Choline and betaine in health and disease | Journal of Inherited Metabolic Disease | 2011 | 438 |
6 | Mitochondrial ATP synthase: architecture, function and pathology | Journal of Inherited Metabolic Disease | 2012 | 412 |
7 | Dealing with methionine/homocysteine sulfur: cysteine metabolism to taurine and inorganic sulfur | Journal of Inherited Metabolic Disease | 2011 | 366 |
8 | B6-responsive disorders: A model of vitamin dependency | Journal of Inherited Metabolic Disease | 2006 | 364 |
9 | Overview of homocysteine and folate metabolism. With special references to cardiovascular disease and neural tube defects | Journal of Inherited Metabolic Disease | 2011 | 340 |
10 | Cumulative incidence rates of the mucopolysaccharidoses in Germany | Journal of Inherited Metabolic Disease | 2005 | 330 |
11 | Diagnosis and management of glutaric aciduria type I – revised recommendations | Journal of Inherited Metabolic Disease | 2011 | 327 |
12 | Valproic acid metabolism and its effects on mitochondrial fatty acid oxidation: A review | Journal of Inherited Metabolic Disease | 2008 | 304 |
13 | Sanfilippo syndrome: A mini‐review | Journal of Inherited Metabolic Disease | 2008 | 303 |
14 | Genetic bases and clinical manifestations of coenzyme Q10 (CoQ10) deficiency | Journal of Inherited Metabolic Disease | 2015 | 301 |
15 | Recognition and management of fatty acid oxidation defects: A series of 107 patients | Journal of Inherited Metabolic Disease | 1999 | 295 |
16 | Fabry disease: Baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry | Journal of Inherited Metabolic Disease | 2007 | 291 |
17 | International Morquio A Registry: Clinical manifestation and natural course of Morquio A disease | Journal of Inherited Metabolic Disease | 2007 | 278 |
18 | Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision | Journal of Inherited Metabolic Disease | 2019 | 277 |
19 | The biochemistry, metabolism and inherited defects of the pentose phosphate pathway: A review | Journal of Inherited Metabolic Disease | 2008 | 260 |
20 | Homocysteine metabolism, hyperhomocysteinaemia and vascular disease: An overview | Journal of Inherited Metabolic Disease | 2006 | 254 |
21 | Classical galactosaemia revisited | Journal of Inherited Metabolic Disease | 2006 | 252 |
22 | Cerebral ketone body metabolism | Journal of Inherited Metabolic Disease | 2005 | 246 |
23 | Disorders of mitochondrial fatty acyl‐CoA β‐oxidation | Journal of Inherited Metabolic Disease | 1999 | 243 |
24 | Cobalamin C defect: natural history, pathophysiology, and treatment | Journal of Inherited Metabolic Disease | 2011 | 242 |
25 | Mitochondrial complex I: Structure, function and pathology | Journal of Inherited Metabolic Disease | 2006 | 239 |
26 | Tyrosinaemia type I and NTBC (2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione) | Journal of Inherited Metabolic Disease | 1998 | 238 |
27 | Anderson–Fabry disease: Clinical manifestations of disease in female heterozygotes | Journal of Inherited Metabolic Disease | 2001 | 237 |
28 | Neuropsychological outcomes of several storage diseases with and without bone marrow transplantation | Journal of Inherited Metabolic Disease | 1995 | 230 |
29 | Guidelines for the diagnosis and management of cystathionine beta‐synthase deficiency | Journal of Inherited Metabolic Disease | 2017 | 229 |
30 | Vitamin B12, folate, and the methionine remethylation cycle—biochemistry, pathways, and regulation | Journal of Inherited Metabolic Disease | 2019 | 228 |
31 | Progress in understanding 2‐hydroxyglutaric acidurias | Journal of Inherited Metabolic Disease | 2012 | 226 |
32 | Storage policies and use of the Danish Newborn Screening Biobank | Journal of Inherited Metabolic Disease | 2007 | 224 |
33 | Ammonia toxicity to the brain | Journal of Inherited Metabolic Disease | 2013 | 224 |
34 | The incidence of inherited porphyrias in Europe | Journal of Inherited Metabolic Disease | 2013 | 220 |
35 | Sustained therapeutic effects of oral miglustat (Zavesca, N -butyldeoxynojirimycin, OGT 918) in type I Gaucher disease | Journal of Inherited Metabolic Disease | 2004 | 218 |
36 | The role of the iminosugar N -butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: A position statement | Journal of Inherited Metabolic Disease | 2003 | 217 |
37 | Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management | Journal of Inherited Metabolic Disease | 2011 | 217 |
38 | Folate and cancer: how DNA damage, repair and methylation impact on colon carcinogenesis | Journal of Inherited Metabolic Disease | 2011 | 214 |
39 | Complex lipid trafficking in Niemann‐Pick disease type C | Journal of Inherited Metabolic Disease | 2015 | 213 |
40 | Mitochondrial disorders: Prevalence, myths and advances | Journal of Inherited Metabolic Disease | 2004 | 211 |
41 | Adrenoleukodystrophy: Phenotypic variability and implications for therapy | Journal of Inherited Metabolic Disease | 1992 | 207 |
42 | Guidelines for diagnosis and management of the cobalamin‐related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency | Journal of Inherited Metabolic Disease | 2017 | 206 |
43 | Neonatal screening in Europe; the situation in 2004 | Journal of Inherited Metabolic Disease | 2007 | 204 |
44 | The natural history of vascular disease in homocystinuria and the effects of treatment | Journal of Inherited Metabolic Disease | 1997 | 202 |
45 | The pathogenesis and treatment of acid sphingomyelinase‐deficient Niemann–Pick disease | Journal of Inherited Metabolic Disease | 2007 | 202 |
46 | Inherited disorders of GABA metabolism | Journal of Inherited Metabolic Disease | 1993 | 200 |
47 | ‘Classical’ organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: Long-term outcome and effects of expanded newborn screening using tandem mass spectrometry | Journal of Inherited Metabolic Disease | 2006 | 199 |
48 | The tandem mass spectrometry newborn screening experience in North Carolina: 1997–2005 | Journal of Inherited Metabolic Disease | 2006 | 195 |
49 | Brown‐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 treatment | Journal of Inherited Metabolic Disease | 2011 | 194 |
50 | Enzyme replacement and enhancement therapies for lysosomal diseases | Journal of Inherited Metabolic Disease | 2004 | 191 |