PubRank

Hans R Waterham

Author PubWeight™ 101.30‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Biochemistry of mammalian peroxisomes revisited. Annu Rev Biochem 2006 3.59
2 Sodium taurocholate cotransporting polypeptide (SLC10A1) deficiency: conjugated hypercholanemia without a clear clinical phenotype. Hepatology 2014 2.19
3 Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency. JAMA 2006 2.11
4 Functions and biosynthesis of plasmalogens in health and disease. Biochim Biophys Acta 2004 2.04
5 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. J Inherit Metab Dis 2010 1.68
6 Long-chain fatty acid oxidation during early human development. Pediatr Res 2005 1.62
7 A role for geranylgeranylation in interleukin-1beta secretion. Arthritis Rheum 2006 1.62
8 HMG-CoA reductase inhibition induces IL-1beta release through Rac1/PI3K/PKB-dependent caspase-1 activation. Blood 2008 1.54
9 The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl-CoA esters. FASEB J 2008 1.51
10 Peroxisomal disorders: the single peroxisomal enzyme deficiencies. Biochim Biophys Acta 2006 1.51
11 Proteomics characterization of mouse kidney peroxisomes by tandem mass spectrometry and protein correlation profiling. Mol Cell Proteomics 2007 1.41
12 The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives. Orphanet J Rare Dis 2012 1.37
13 Lack of isoprenoid products raises ex vivo interleukin-1beta secretion in hyperimmunoglobulinemia D and periodic fever syndrome. Arthritis Rheum 2002 1.30
14 The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results. J Inherit Metab Dis 2010 1.29
15 Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. Hum Mutat 2011 1.23
16 Statin synergizes with LPS to induce IL-1beta release by THP-1 cells through activation of caspase-1. Mol Immunol 2008 1.22
17 Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis. Am J Hum Genet 2005 1.22
18 Clinical implications of mutation analysis in primary hyperoxaluria type 1. Kidney Int 2004 1.21
19 Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7). Hum Mutat 2004 1.18
20 Mutations in PEX10 are a cause of autosomal recessive ataxia. Ann Neurol 2010 1.18
21 A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene. J Med Genet 2012 1.17
22 The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcome. J Pediatr 2006 1.17
23 Identification of PEX7 as the second gene involved in Refsum disease. Am J Hum Genet 2003 1.17
24 Metabolite transport across the peroxisomal membrane. Biochem J 2007 1.16
25 Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene. J Med Genet 2010 1.16
26 The peroxisomal lumen in Saccharomyces cerevisiae is alkaline. J Cell Sci 2004 1.11
27 Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients. Am J Med Genet A 2004 1.11
28 Identification of the human mitochondrial FAD transporter and its potential role in multiple acyl-CoA dehydrogenase deficiency. Mol Genet Metab 2005 1.11
29 Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in hyper-IgD and periodic fever syndrome. Hum Mol Genet 2002 1.09
30 Novel metabolic and molecular findings in hepatic carnitine palmitoyltransferase I deficiency. Mol Genet Metab 2005 1.08
31 Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum. Pediatrics 2003 1.07
32 A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents. Am J Hum Genet 2002 1.07
33 Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene. Orphanet J Rare Dis 2011 1.06
34 The peroxisomal ABC transporter family. Pflugers Arch 2006 1.05
35 Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy. Pediatr Res 2010 1.05
36 HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase. Orphanet J Rare Dis 2013 1.03
37 Short-chain Acyl-CoA dehydrogenase deficiency: studies in a large family adding to the complexity of the disorder. Pediatrics 2003 1.02
38 Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure. Biochem J 2002 1.02
39 Differential substrate specificities of human ABCD1 and ABCD2 in peroxisomal fatty acid β-oxidation. Biochim Biophys Acta 2010 1.01
40 Carrier frequency of the V377I (1129G>A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the Netherlands. Eur J Hum Genet 2003 1.01
41 Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1. Am J Hum Genet 2002 1.00
42 Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency. Hum Mutat 2006 0.99
43 Plasmalogens participate in very-long-chain fatty acid-induced pathology. Brain 2008 0.99
44 Alkyl-glycerol rescues plasmalogen levels and pathology of ether-phospholipid deficient mice. PLoS One 2011 0.97
45 A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees C. J Hum Genet 2007 0.96
46 Diagnostics and therapeutic insights in a severe case of mevalonate kinase deficiency. Pediatrics 2007 0.96
47 Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata. Hum Mol Genet 2003 0.96
48 A patient with hyper-IgD syndrome responding to anti-TNF treatment. Clin Rheumatol 2006 0.95
49 Identification of novel mutations in classical galactosemia. Hum Mutat 2005 0.95
50 Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency. Hum Mutat 2007 0.94
51 Pathologic, radiographic and molecular findings in three fetuses diagnosed with HEM/Greenberg skeletal dysplasia. Prenat Diagn 2008 0.94
52 Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolism. Hum Mutat 2004 0.94
53 The proteome of human liver peroxisomes: identification of five new peroxisomal constituents by a label-free quantitative proteomics survey. PLoS One 2013 0.94
54 Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature. Am J Med Genet A 2011 0.91
55 The difference between observed and expected prevalence of MCAD deficiency in The Netherlands: a genetic epidemiological study. Eur J Hum Genet 2005 0.91
56 Isolated mitochondrial long-chain ketoacyl-CoA thiolase deficiency resulting from mutations in the HADHB gene. Clin Chem 2006 0.91
57 Sjögren-Larsson syndrome in clinical practice. J Inherit Metab Dis 2012 0.91
58 Adult peroxisomal acyl-coenzyme A oxidase deficiency with cerebellar and brainstem atrophy. J Neurol Neurosurg Psychiatry 2010 0.90
59 Peroxisomal fatty acid uptake mechanism in Saccharomyces cerevisiae. J Biol Chem 2012 0.90
60 Hyperimmunoglobulinemia D and periodic fever syndrome; treatment with etanercept and follow-up. Clin Rheumatol 2008 0.90
61 Detection of nonsterol isoprenoids by HPLC-MS/MS. Anal Biochem 2008 0.89
62 Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients. Hum Mutat 2010 0.88
63 Identification of PEX7 as the second gene involved in Refsum disease. Adv Exp Med Biol 2003 0.88
64 Regulation of isoprenoid/cholesterol biosynthesis in cells from mevalonate kinase-deficient patients. J Biol Chem 2002 0.88
65 Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder. Orphanet J Rare Dis 2013 0.87
66 Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder. Pediatr Res 2003 0.86
67 A new coding system for metabolic disorders demonstrates gaps in the international disease classifications ICD-10 and SNOMED-CT, which can be barriers to genotype-phenotype data sharing. Hum Mutat 2013 0.86
68 Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study. Orphanet J Rare Dis 2012 0.85
69 Manipulation of isoprenoid biosynthesis as a possible therapeutic option in mevalonate kinase deficiency. Arthritis Rheum 2006 0.85
70 Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR. Am J Med Genet A 2013 0.85
71 Phosphomevalonate kinase is a cytosolic protein in humans. J Lipid Res 2004 0.85
72 Absence of functional peroxisomes does not lead to deficiency of enzymes involved in cholesterol biosynthesis. J Lipid Res 2002 0.85
73 Mevalonate kinase is a cytosolic enzyme in humans. J Cell Sci 2004 0.85
74 Fasting and fat-loading tests provide pathophysiological insight into short-chain acyl-coenzyme a dehydrogenase deficiency. J Pediatr 2010 0.85
75 A mutation in PEX19 causes a severe clinical phenotype in a patient with peroxisomal biogenesis disorder. Am J Med Genet A 2010 0.84
76 Flavin adenine dinucleotide status and the effects of high-dose riboflavin treatment in short-chain acyl-CoA dehydrogenase deficiency. Pediatr Res 2010 0.84
77 Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines. Hum Mutat 2009 0.84
78 Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia punctata. J Lipid Res 2012 0.83
79 Metabolic functions and biogenesis of peroxisomes in health and disease. Biochim Biophys Acta 2012 0.83
80 Human mevalonate pyrophosphate decarboxylase is localized in the cytosol. Mol Genet Metab 2004 0.83
81 Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome. Am J Med Genet A 2003 0.82
82 Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder. Eur J Hum Genet 2004 0.82
83 Typical cMRI pattern as diagnostic clue for D-bifunctional protein deficiency without apparent biochemical abnormalities in plasma. Am J Med Genet A 2010 0.81
84 Primary hyperoxaluria type 1 with a novel mutation. Indian J Pediatr 2008 0.81
85 Inhibition of the isoprenoid biosynthesis pathway; detection of intermediates by UPLC-MS/MS. Biochim Biophys Acta 2011 0.80
86 X-linked adrenomyeloneuropathy due to a novel missense mutation in the ABCD1 start codon presenting as demyelinating neuropathy. J Peripher Nerv Syst 2011 0.80
87 Demonstration and characterization of phosphate transport in mammalian peroxisomes. Biochem J 2005 0.80
88 First identification of a 2-ketoglutarate/isocitrate transport system in mammalian peroxisomes and its characterization. Biochem Biophys Res Commun 2006 0.80
89 A newborn with VLCAD deficiency. Clinical, biochemical, and histopathological findings. Eur J Pediatr 2007 0.78
90 Primary hyperoxaluria remains undiagnosed in patients with hyperoxaluria and recurrent urolithiasis. Clin Chem 2007 0.78
91 Cholesterol biosynthesis is not defective in peroxisome biogenesis defective fibroblasts. Mol Genet Metab 2003 0.78
92 Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency. JIMD Rep 2012 0.77
93 Mitochondrial trifunctional protein deficiency with recurrent rhabdomyolysis. Pediatr Neurol 2009 0.77
94 Peroxisomal fatty acid alpha- and beta-oxidation in health and disease: new insights. Adv Exp Med Biol 2003 0.77
95 Demonstration of bile acid transport across the mammalian peroxisomal membrane. Biochem Biophys Res Commun 2007 0.76
96 Zellweger syndrome resulting from maternal isodisomy of chromosome 1. Am J Med Genet A 2007 0.76
97 Effects of hematopoietic stem cell transplantation on acyl-CoA oxidase deficiency: a sibling comparison study. J Inherit Metab Dis 2014 0.76
98 Peroxisome deficiency does not result in deficiency of enzymes involved in cholesterol biosynthesis. Adv Exp Med Biol 2003 0.75
99 Familial very long chain acyl-CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: improved survival by prompt diagnosis. Am J Med Genet A 2014 0.75
100 Biochemical markers predicting survival in peroxisome biogenesis disorders. Adv Exp Med Biol 2003 0.75
101 Rhizomelic chondrodysplasia punctata and cardiac pathology. J Med Genet 2013 0.75
102 A case of D-bifunctional protein deficiency: clinical, biochemical and molecular investigations. Pediatr Int 2011 0.75
103 [Hereditary fructose intolerance]. Ned Tijdschr Geneeskd 2014 0.75
104 Resolution of the molecular defect in a patient with peroxisomal mosaicism in the liver. Adv Exp Med Biol 2003 0.75
105 Midface hypoplasia, obesity, developmental delay and neonatal hypotonia in two brothers. Clin Dysmorphol 2003 0.75
106 Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria. J Inherit Metab Dis 2015 0.75
107 Letter to the editor: Oral Cholic Acid in Zellweger Spectrum Disorders: A Word of Caution. J Pediatr Gastroenterol Nutr 2017 0.75
108 Abnormal facial appearance, body asymmetry, limb deformities, and internal malformations. Am J Med Genet A 2011 0.75
109 Novel mutations causing hyperimmunoglobulin D and periodic fever syndrome. Indian Pediatr 2012 0.75