Published in J Pediatr on December 01, 2005
The congenital disorders of glycosylation: a multifaceted group of syndromes. NeuroRx (2006) 1.33
Congenital disorder of glycosylation type Ix: review of clinical spectrum and diagnostic steps. J Inherit Metab Dis (2008) 1.23
Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation. Genet Med (2011) 1.15
From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG). Heart Fail Rev (2013) 0.86
ALG8-CDG: novel patients and review of the literature. Orphanet J Rare Dis (2015) 0.85
A new case of ALG8 deficiency (CDG Ih). J Inherit Metab Dis (2009) 0.78
The expanding spectrum of congenital disorders of glycosylation. J Pediatr (2005) 0.75
Congenital protein hypoglycosylation diseases. Appl Clin Genet (2012) 0.75
Two Argentinean Siblings with CDG-Ix: A Novel Type of Congenital Disorder of Glycosylation? JIMD Rep (2011) 0.75
Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature. J Inherit Metab Dis (2017) 0.75
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet (2008) 4.87
Proinflammatory S100 proteins regulate the accumulation of myeloid-derived suppressor cells. J Immunol (2008) 3.91
Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder. Nat Med (2004) 3.06
Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements. Cell (2011) 3.03
Detection of clinically relevant exonic copy-number changes by array CGH. Hum Mutat (2010) 2.93
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet Med (2006) 2.78
Multiple phenotypes in phosphoglucomutase 1 deficiency. N Engl J Med (2014) 2.62
SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. Cell (2010) 2.49
RAGE, carboxylated glycans and S100A8/A9 play essential roles in colitis-associated carcinogenesis. Carcinogenesis (2008) 2.33
Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency. Arch Neurol (2005) 1.72
Endogenous damage-associated molecular pattern molecules at the crossroads of inflammation and cancer. Neoplasia (2009) 1.66
Mitochondrial lipid abnormality and electron transport chain impairment in mice lacking alpha-synuclein. Mol Cell Biol (2005) 1.66
Activation of cardiac Cdk9 represses PGC-1 and confers a predisposition to heart failure. EMBO J (2004) 1.62
Symbol nomenclature for glycan representation. Proteomics (2009) 1.56
Folate pathway polymorphisms predict deficits in attention and processing speed after childhood leukemia therapy. Pediatr Blood Cancer (2011) 1.55
Heparan sulfate and syndecan-1 are essential in maintaining murine and human intestinal epithelial barrier function. J Clin Invest (2008) 1.52
N -Glycans on the receptor for advanced glycation end products influence amphoterin binding and neurite outgrowth. J Neurochem (2002) 1.51
CDG nomenclature: time for a change! Biochim Biophys Acta (2009) 1.49
Recurrent partial rhombencephalosynapsis and holoprosencephaly in siblings with a mutation of ZIC2. Am J Med Genet A (2011) 1.49
Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping. Hum Genet (2009) 1.46
Creatine metabolism in combined methylmalonic aciduria and homocystinuria. Ann Neurol (2005) 1.46
Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation? EMBO J (2007) 1.44
COG8 deficiency causes new congenital disorder of glycosylation type IIh. Hum Mol Genet (2007) 1.41
Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia. Am J Med Genet A (2009) 1.40
Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. Am J Hum Genet (2012) 1.38
Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options. Neurotherapeutics (2013) 1.36
Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij. Hum Mutat (2003) 1.36
GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects. Mol Genet Metab (2008) 1.33
The congenital disorders of glycosylation: a multifaceted group of syndromes. NeuroRx (2006) 1.33
Glycosylation diseases: quo vadis? Biochim Biophys Acta (2008) 1.30
Self-healing collodion membrane and mild nonbullous congenital ichthyosiform erythroderma due to 2 novel mutations in the ALOX12B gene. Arch Dermatol (2008) 1.27
Inhibition of N-linked glycosylation disrupts receptor tyrosine kinase signaling in tumor cells. Cancer Res (2008) 1.26
Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementation. Mol Genet Metab (2012) 1.24
Utility of oligonucleotide array-based comparative genomic hybridization for detection of target gene deletions. Clin Chem (2008) 1.21
TMEM165 deficiency causes a congenital disorder of glycosylation. Am J Hum Genet (2012) 1.20
Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality. Am J Med Genet A (2007) 1.20
The mitochondrial myopathy encephalopathy, lactic acidosis with stroke-like episodes (MELAS) syndrome: a review of treatment options. CNS Drugs (2006) 1.19
Phosphomannose isomerase inhibitors improve N-glycosylation in selected phosphomannomutase-deficient fibroblasts. J Biol Chem (2011) 1.19
Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects. Genet Med (2010) 1.18
Deletion and duplication of 15q24: molecular mechanisms and potential modification by additional copy number variants. Genet Med (2010) 1.18
Ablation of mouse phosphomannose isomerase (Mpi) causes mannose 6-phosphate accumulation, toxicity, and embryonic lethality. J Biol Chem (2005) 1.16
Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient. Am J Med Genet A (2005) 1.16
Expression of human factor VIII by splicing between dimerized AAV vectors. Mol Ther (2002) 1.16
Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation. Genet Med (2011) 1.15
Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations. Mol Genet Metab (2011) 1.13
Carboxylated glycans mediate colitis through activation of NF-kappa B. J Immunol (2005) 1.12
Clinical and biochemical characterization of a patient with congenital disorder of glycosylation (CDG) IIx. J Pediatr (2005) 1.12
Hydrophobic Man-1-P derivatives correct abnormal glycosylation in Type I congenital disorder of glycosylation fibroblasts. Glycobiology (2005) 1.12
Citrin deficiency, a perplexing global disorder. Mol Genet Metab (2008) 1.12
Citrulline and arginine utility in treating nitric oxide deficiency in mitochondrial disorders. Mol Genet Metab (2012) 1.11
Molecular imaging of N-linked glycosylation suggests glycan biosynthesis is a novel target for cancer therapy. Clin Cancer Res (2010) 1.10
Quaking is essential for blood vessel development. Genesis (2002) 1.10
DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation. Am J Hum Genet (2012) 1.09
A sensitive green fluorescent protein biomarker of N-glycosylation site occupancy. FASEB J (2012) 1.09
Molecular and clinical characterization of a Moroccan Cog7 deficient patient. Mol Genet Metab (2007) 1.09
Glycobiology of neuromuscular disorders. Glycobiology (2003) 1.08
Spectrum of pediatric neuromyelitis optica. Pediatrics (2008) 1.08
GLUT14, a duplicon of GLUT3, is specifically expressed in testis as alternative splice forms. Genomics (2002) 1.07
Phenotypic manifestations of copy number variation in chromosome 16p13.11. Eur J Hum Genet (2010) 1.06
Identification of a frequent variant in ALG6, the cause of Congenital Disorder of Glycosylation-Ic. Hum Mutat (2003) 1.05
Molecular bases and clinical spectrum of early infantile epileptic encephalopathies. Eur J Med Genet (2012) 1.05
Carboxylated N-glycans on RAGE promote S100A12 binding and signaling. J Cell Biochem (2010) 1.05
Heparan sulfate plays a central role in a dynamic in vitro model of protein-losing enteropathy. J Biol Chem (2006) 1.03
Agm1/Pgm3-mediated sugar nucleotide synthesis is essential for hematopoiesis and development. Mol Cell Biol (2007) 1.03
Brief report: autistic symptoms, developmental regression, mental retardation, epilepsy, and dyskinesias in CNS folate deficiency. J Autism Dev Disord (2007) 1.03
Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation. Am J Hum Genet (2013) 1.03
Schimke immuno-osseous dysplasia: a cell autonomous disorder? Am J Med Genet A (2006) 1.02
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats. Hum Mutat (2011) 1.01
Epimerase-deficiency galactosemia is not a binary condition. Am J Hum Genet (2005) 1.00
Ménage-à-trois 1 is critical for the transcriptional function of PPARgamma coactivator 1. Cell Metab (2007) 1.00
Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency. Liver Transpl (2008) 1.00
Congenital disorder of glycosylation id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia. J Clin Endocrinol Metab (2005) 0.99
A zebrafish model of PMM2-CDG reveals altered neurogenesis and a substrate-accumulation mechanism for N-linked glycosylation deficiency. Mol Biol Cell (2012) 0.99
The relative contribution of mannose salvage pathways to glycosylation in PMI-deficient mouse embryonic fibroblast cells. FEBS J (2008) 0.99
Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defects. Hum Mutat (2013) 0.99
Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency. Hum Mutat (2010) 0.98
Mutations in STT3A and STT3B cause two congenital disorders of glycosylation. Hum Mol Genet (2013) 0.98
Identification of intercellular cell adhesion molecule 1 (ICAM-1) as a hypoglycosylation marker in congenital disorders of glycosylation cells. J Biol Chem (2012) 0.98
Neurologic phenotype of Schimke immuno-osseous dysplasia and neurodevelopmental expression of SMARCAL1. J Neuropathol Exp Neurol (2008) 0.96
Cryptogenic liver disease in four children: a novel congenital disorder of glycosylation. Pediatr Res (2006) 0.96
Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome. Am J Med Genet A (2012) 0.95
Citrin deficiency: a novel cause of failure to thrive that responds to a high-protein, low-carbohydrate diet. Pediatrics (2007) 0.93
Heparan sulfate depletion amplifies TNF-alpha-induced protein leakage in an in vitro model of protein-losing enteropathy. Am J Physiol Gastrointest Liver Physiol (2004) 0.93
Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature. Am J Med Genet A (2011) 0.91
Insights into the pathogenesis and treatment of cancer from inborn errors of metabolism. Am J Hum Genet (2011) 0.91
A functional mouse retroposed gene Rps23r1 reduces Alzheimer's beta-amyloid levels and tau phosphorylation. Neuron (2009) 0.91
Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins. J Pediatr (2002) 0.91
RFT1 deficiency in three novel CDG patients. Hum Mutat (2009) 0.90
Reduced production of sulfated glycosaminoglycans occurs in Zambian children with kwashiorkor but not marasmus. Am J Clin Nutr (2008) 0.90
Spatial regulation of Golgi phosphatidylinositol-4-phosphate is required for enzyme localization and glycosylation fidelity. Traffic (2010) 0.90
A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency. Hum Mol Genet (2002) 0.90
Potent, selective, and orally available benzoisothiazolone phosphomannose isomerase inhibitors as probes for congenital disorder of glycosylation Ia. J Med Chem (2011) 0.89
The Xp contiguous deletion syndrome and autism. Am J Med Genet A (2009) 0.89
Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A. Genet Med (2012) 0.89
Mannose efflux from the cells: a potential source of mannose in blood. J Biol Chem (2011) 0.89
The metabolic origins of mannose in glycoproteins. J Biol Chem (2014) 0.89