Published in Am J Nephrol on June 15, 2005
Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies. Kidney Int (2013) 1.66
Hereditary causes of kidney stones and chronic kidney disease. Pediatr Nephrol (2013) 1.64
Rapid profiling of disease alleles using a tunable reporter of protein misfolding. Genetics (2012) 1.20
Primary hyperoxaluria. Int J Nephrol (2011) 1.00
Vitamin B6 in primary hyperoxaluria I: first prospective trial after 40 years of practice. Clin J Am Soc Nephrol (2014) 0.90
Primary hyperoxaluria: report of an Italian family with clear sex conditioned penetrance. Urol Res (2008) 0.83
Allele-specific characterization of alanine: glyoxylate aminotransferase variants associated with primary hyperoxaluria. PLoS One (2014) 0.82
Extreme intrafamilial variability of Saudi brothers with primary hyperoxaluria type 1. Ther Clin Risk Manag (2012) 0.77
Primary hyperoxalurias: diagnosis and treatment. Pediatr Nephrol (2014) 0.77
Identification of compound heterozygous patients with primary hyperoxaluria type 1: clinical evaluations and in silico investigations. BMC Nephrol (2017) 0.75
A lethal defect of mitochondrial and peroxisomal fission. N Engl J Med (2007) 5.27
A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J Pediatr (2006) 3.45
Monocarboxylate transporter 1 deficiency and ketone utilization. N Engl J Med (2014) 3.36
Primary hyperoxaluria. N Engl J Med (2013) 3.04
Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants. Mol Genet Metab (2010) 2.99
Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease. Genet Med (2009) 2.53
A general introduction to the biochemistry of mitochondrial fatty acid β-oxidation. J Inherit Metab Dis (2010) 2.47
Mutations in DHDPSL are responsible for primary hyperoxaluria type III. Am J Hum Genet (2010) 2.32
Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease. Pediatr Res (2009) 2.28
X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management. Orphanet J Rare Dis (2012) 2.28
Sodium taurocholate cotransporting polypeptide (SLC10A1) deficiency: conjugated hypercholanemia without a clear clinical phenotype. Hepatology (2014) 2.19
X-linked adrenoleukodystrophy in women: a cross-sectional cohort study. Brain (2014) 2.16
Carnitine biosynthesis in mammals. Biochem J (2002) 2.13
Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency. JAMA (2006) 2.11
Genetic analysis--a diagnostic tool for primary hyperoxaluria type I. Pediatr Nephrol (2002) 2.07
Cardiolipin provides an essential activating platform for caspase-8 on mitochondria. J Cell Biol (2008) 2.06
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome. Nat Genet (2004) 2.04
Functions and biosynthesis of plasmalogens in health and disease. Biochim Biophys Acta (2004) 2.04
Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization. Nat Genet (2010) 2.00
Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p. Blood (2010) 2.00
Aberrant cardiolipin metabolism in the yeast taz1 mutant: a model for Barth syndrome. Mol Microbiol (2004) 1.90
Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome. Am J Hum Genet (2011) 1.86
A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism. Proc Natl Acad Sci U S A (2012) 1.85
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update. Am J Med Genet A (2004) 1.82
Direct nonisotopic assay of 3-methylglutaconyl-CoA hydratase in cultured human skin fibroblasts to specifically identify patients with 3-methylglutaconic aciduria type I. Clin Chem (2004) 1.73
Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia. Nat Genet (2003) 1.71
The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3. Nephrol Dial Transplant (2012) 1.71
Four of the most common mutations in primary hyperoxaluria type 1 unmask the cryptic mitochondrial targeting sequence of alanine:glyoxylate aminotransferase encoded by the polymorphic minor allele. J Biol Chem (2012) 1.69
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. Am J Hum Genet (2004) 1.66
Long-chain fatty acid oxidation during early human development. Pediatr Res (2005) 1.62
Acute infantile liver failure due to mutations in the TRMU gene. Am J Hum Genet (2009) 1.61
Phospholipid abnormalities in children with Barth syndrome. J Am Coll Cardiol (2003) 1.59
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients. Pediatrics (2002) 1.59
Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis. J Lipid Res (2005) 1.56
Hepatocellular transport and gastrointestinal absorption of lanthanum in chronic renal failure. Kidney Int (2008) 1.55
Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene. Hum Mutat (2009) 1.55
Only one splice variant of the human TAZ gene encodes a functional protein with a role in cardiolipin metabolism. J Biol Chem (2003) 1.54
Hyperostosis-hyperphosphatemia syndrome: a congenital disorder of O-glycosylation associated with augmented processing of fibroblast growth factor 23. J Bone Miner Res (2007) 1.52
A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma. Am J Hum Genet (2005) 1.51
The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl-CoA esters. FASEB J (2008) 1.51
Cadaver-donor renal transplantation of children in Israel (1990-2001): racial disparities in health care delivery? Pediatrics (2003) 1.50
Identification of fatty aldehyde dehydrogenase in the breakdown of phytol to phytanic acid. Mol Genet Metab (2004) 1.50
L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1. Hum Mol Genet (2004) 1.50
Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy. Am J Hum Genet (2008) 1.49
A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24. Am J Hum Genet (2010) 1.48
Etiology of mental retardation in children referred to a tertiary care center: a prospective study. Am J Ment Retard (2005) 1.48
Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment. Nephrol Dial Transplant (2012) 1.48
Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2. Hum Mutat (2003) 1.48
Prenatal brain disruption in molybdenum cofactor deficiency. J Child Neurol (2011) 1.45
Myeloid dysplasia in familial 3-methylglutaconic aciduria. J Pediatr Hematol Oncol (2006) 1.42
Proteomics characterization of mouse kidney peroxisomes by tandem mass spectrometry and protein correlation profiling. Mol Cell Proteomics (2007) 1.41
Clinical and biochemical spectrum of D-bifunctional protein deficiency. Ann Neurol (2006) 1.41
Nonsyndromic paucity of interlobular bile ducts: report of 10 patients. J Pediatr Gastroenterol Nutr (2003) 1.41
Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene. Am J Hum Genet (2003) 1.40
The human TAZ gene complements mitochondrial dysfunction in the yeast taz1Delta mutant. Implications for Barth syndrome. J Biol Chem (2004) 1.39
Neonatal screening for very long-chain acyl-coA dehydrogenase deficiency: enzymatic and molecular evaluation of neonates with elevated C14:1-carnitine levels. Pediatrics (2006) 1.38
The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives. Orphanet J Rare Dis (2012) 1.37
Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor. Hum Mol Genet (2007) 1.36
Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation. PLoS Genet (2011) 1.36
Pitfalls of neonatal screening for very-long-chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry. J Pediatr (2006) 1.33
Comparison of kinome profiles of Barrett's esophagus with normal squamous esophagus and normal gastric cardia. Cancer Res (2006) 1.32
Lack of isoprenoid products raises ex vivo interleukin-1beta secretion in hyperimmunoglobulinemia D and periodic fever syndrome. Arthritis Rheum (2002) 1.30
Analysis of very long-chain fatty acids using electrospray ionization mass spectrometry. Mol Genet Metab (2003) 1.28
Primary hyperoxaluria type 1 in The Netherlands: prevalence and outcome. Nephrol Dial Transplant (2003) 1.28
The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior. Am J Hum Genet (2006) 1.27
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene. Am J Hum Genet (2003) 1.27
Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts. J Pediatr (2002) 1.27
Clinical and molecular genetic features of ARC syndrome. Hum Genet (2006) 1.26
The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy. EMBO Mol Med (2010) 1.26
Potential mechanisms of marked hyperoxaluria not due to primary hyperoxaluria I or II. Kidney Int (2002) 1.25
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. Hum Mutat (2011) 1.23
Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis. Am J Hum Genet (2005) 1.22
Clinical implications of mutation analysis in primary hyperoxaluria type 1. Kidney Int (2004) 1.21
Mutations in NPHS2 encoding podocin are a prevalent cause of steroid-resistant nephrotic syndrome among Israeli-Arab children. J Am Soc Nephrol (2002) 1.21
Mitochondrial long chain fatty acid beta-oxidation in man and mouse. Biochim Biophys Acta (2009) 1.20
Quantitative and compositional study of cardiolipin in platelets by electrospray ionization mass spectrometry: application for the identification of Barth syndrome patients. Clin Chem (2002) 1.20
Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of patients with primary hyperoxaluria type 1. Clin Chem (2007) 1.19
Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7). Hum Mutat (2004) 1.18
Mutations in PEX10 are a cause of autosomal recessive ataxia. Ann Neurol (2010) 1.18
A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene. J Med Genet (2012) 1.17
Crohn disease: frequency and nature of CARD15 mutations in Ashkenazi and Sephardi/Oriental Jewish families. Am J Hum Genet (2004) 1.17
Identification and characterization of human cardiolipin synthase. FEBS Lett (2006) 1.17
Increased intramyocellular lipid content but normal skeletal muscle mitochondrial oxidative capacity throughout the pathogenesis of type 2 diabetes. FASEB J (2008) 1.17
Identification of PEX7 as the second gene involved in Refsum disease. Am J Hum Genet (2003) 1.17
Metabolite transport across the peroxisomal membrane. Biochem J (2007) 1.16
Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene. J Med Genet (2010) 1.16
The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations. Mol Genet Metab (2009) 1.16
A mutation in an alternative untranslated exon of hexokinase 1 associated with hereditary motor and sensory neuropathy -- Russe (HMSNR). Eur J Hum Genet (2009) 1.15
Dent's disease manifesting as focal glomerulosclerosis: Is it the tip of the iceberg? Pediatr Nephrol (2009) 1.15