Published in JIMD Rep on August 22, 2012
Congenital disorders of glycosylation: new defects and still counting. J Inherit Metab Dis (2014) 1.26
Human diseases associated with form and function of the Golgi complex. Int J Mol Sci (2013) 0.85
Skin manifestations in CDG. J Inherit Metab Dis (2014) 0.80
TMEM115 is an integral membrane protein of the Golgi complex involved in retrograde transport. J Cell Sci (2014) 0.77
Abnormal cartilage development and altered N-glycosylation in Tmem165-deficient zebrafish mirrors the phenotypes associated with TMEM165-CDG. Glycobiology (2015) 0.77
Plants contain small families of UPF0016 proteins including the PHOTOSYNTHESIS AFFECTED MUTANT71 transporter. Plant Signal Behav (2017) 0.75
Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A (2011) 4.27
Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II. Nat Genet (2009) 2.12
Congenital disorders of glycosylation. Ann N Y Acad Sci (2010) 1.93
Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome. Clin Chim Acta (1984) 1.83
Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb). Hum Mutat (2009) 1.61
Congenital disorders of glycosylation (CDG): it's (nearly) all in it! J Inherit Metab Dis (2011) 1.59
Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene. Hum Mutat (2009) 1.52
Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability. Am J Hum Genet (2011) 1.35
Apolipoprotein C-III isofocusing in the diagnosis of genetic defects in O-glycan biosynthesis. Clin Chem (2003) 1.34
Deficiencies in subunits of the Conserved Oligomeric Golgi (COG) complex define a novel group of Congenital Disorders of Glycosylation. Mol Genet Metab (2007) 1.33
Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human. Nat Med (2007) 1.32
Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype. Am J Hum Genet (2005) 1.31
Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta (2012) 1.28
Defective glycosylation of decorin and biglycan, altered collagen structure, and abnormal phenotype of the skin fibroblasts of an Ehlers-Danlos syndrome patient carrying the novel Arg270Cys substitution in galactosyltransferase I (beta4GalT-7). J Mol Med (Berl) (2006) 1.24
Analysis of acidic oligosaccharides and glycopeptides by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. Anal Chem (1996) 1.23
TMEM165 deficiency causes a congenital disorder of glycosylation. Am J Hum Genet (2012) 1.20
Faulty initiation of proteoglycan synthesis causes cardiac and joint defects. Am J Hum Genet (2011) 1.20
Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum. Am J Med Genet A (2011) 1.18
COG defects, birth and rise! Biochim Biophys Acta (2008) 1.14
Familial tumoral calcinosis and the role of O-glycosylation in the maintenance of phosphate homeostasis. Biochim Biophys Acta (2008) 1.10
Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa. Biochim Biophys Acta (2009) 1.10
A novel mutation in FGFR-3 disrupts a putative N-glycosylation site and results in hypochondroplasia. Physiol Genomics (2000) 1.03
The skeletal manifestations of the congenital disorders of glycosylation. Clin Genet (2008) 0.96
Cerebrocostomandibular-like syndrome and a mutation in the conserved oligomeric Golgi complex, subunit 1. Hum Mol Genet (2008) 0.94
Chondroitin beta-1,4-N-acetylgalactosaminyltransferase-1 missense mutations are associated with neuropathies. J Hum Genet (2010) 0.85
Multiplexed glycoproteomic analysis of glycosylation disorders by sequential yolk immunoglobulins immunoseparation and MALDI-TOF MS. Proteomics (2008) 0.85
Carbohydrate-deficient glycoprotein syndrome type I: a new cause of dysostosis multiplex. Skeletal Radiol (1998) 0.80
Primary skeletal dysplasia as a major manifesting feature in an infant with congenital disorder of glycosylation type Ia. Am J Med Genet A (2008) 0.80
Dystonic reactions in children caused by metoclopramide. Arch Dis Child (1970) 4.80
SOX10 mutations in patients with Waardenburg-Hirschsprung disease. Nat Genet (1998) 3.82
Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I. FEBS Lett (1995) 2.64
Reasons for loss to follow-up among mothers registered in a prevention-of-mother-to-child transmission program in rural Malawi. Trans R Soc Trop Med Hyg (2008) 2.50
Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome). Nat Genet (1997) 2.30
An evaluation of two years of clinical experience with ketoconazole. Rev Infect Dis (1981) 2.04
Erythromycin is a motilin receptor agonist. Am J Physiol (1989) 2.00
Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis. Am J Hum Genet (1998) 1.87
Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome. Clin Chim Acta (1984) 1.83
Lower than expected desmosomal gene mutation prevalence in endurance athletes with complex ventricular arrhythmias of right ventricular origin. Heart (2010) 1.82
Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type. Neurology (2008) 1.78
Sensitization to insulin in adolescent girls to normalize hirsutism, hyperandrogenism, oligomenorrhea, dyslipidemia, and hyperinsulinism after precocious pubarche. J Clin Endocrinol Metab (2000) 1.76
Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2. Neurology (2011) 1.72
Sequence analysis of heparan sulfate epitopes with graded affinities for fibroblast growth factors 1 and 2. J Biol Chem (2001) 1.68
Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A. Am J Hum Genet (1998) 1.66
Effect of enzyme therapy in juvenile patients with Pompe disease: a three-year open-label study. Neuromuscul Disord (2010) 1.62
An infantile autistic syndrome characterised by the presence of succinylpurines in body fluids. Lancet (1984) 1.61
Insulin-like growth factors and their binding proteins in the term and preterm human fetus and neonate with normal and extremes of intrauterine growth. J Clin Endocrinol Metab (1995) 1.59
Factor VIII gene inversions in severe hemophilia A: results of an international consortium study. Blood (1995) 1.59
Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1. Am J Hum Genet (1999) 1.56
Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map. J Med Genet (2004) 1.55
Effect of low-dose testosterone treatment on craniofacial growth in boys with delayed puberty. Eur J Orthod (1999) 1.55
Cytoplasmic free calcium, myosin light chain phosphorylation, and force in phasic and tonic smooth muscle. J Gen Physiol (1988) 1.53
Endocrinology of the carbohydrate-deficient glycoprotein syndrome type 1 from birth through adolescence. Pediatr Res (1995) 1.52
Cognitive outcome of patients with classic infantile Pompe disease receiving enzyme therapy. Neurology (2012) 1.52
Vigabatrin in GABA metabolism disorders. Lancet (1989) 1.51
Phylogenetic relationships within the cyst-forming nematodes (Nematoda, Heteroderidae) based on analysis of sequences from the ITS regions of ribosomal DNA. Mol Phylogenet Evol (2001) 1.50
Inherited disorders of GABA metabolism. J Inherit Metab Dis (1993) 1.50
Low cerebrospinal fluid concentration of free gamma-aminobutyric acid in startle disease. Lancet (1992) 1.49
Endocrine consequences of long-term intrathecal administration of opioids. J Clin Endocrinol Metab (2000) 1.48
Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation. Blood (2001) 1.47
D-penicillamine-induced IgA deficiency in Wilson's disease. Lancet (1976) 1.47
Mosaic 13 trisomy due to de novo 13/13 translocation with subsequent fission. Karyotype: 46,XX,-13, +t(13;13)(p11;q11)/46,XX,del(13)(p11). A second example. Ann Genet (1989) 1.46
Nongenetic male pseudohermaphroditism and reduced prenatal growth. N Engl J Med (2001) 1.45
Adjunctive steroid treatment in acute bacterial meningitis. "To do or not to do: that is the question". Acta Clin Belg (2011) 1.44
The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients. Eur J Med Genet (2005) 1.43
Microheterogeneity of serum glycoproteins and their liver precursors in patients with carbohydrate-deficient glycoprotein syndrome type I: apparent deficiencies in clusterin and serum amyloid P. J Lab Clin Med (1997) 1.42
Modeling human congenital disorder of glycosylation type IIa in the mouse: conservation of asparagine-linked glycan-dependent functions in mammalian physiology and insights into disease pathogenesis. Glycobiology (2001) 1.41
Primary autosomal recessive microcephaly: MCPH5 maps to 1q25-q32. Am J Hum Genet (2000) 1.41
Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development. Am J Hum Genet (1996) 1.38
On the nomenclature of congenital disorders of glycosylation (CDG). J Inherit Metab Dis (2008) 1.38
The mitochondrial genome of Xiphinema americanum sensu stricto (Nematoda: Enoplea): considerable economization in the length and structural features of encoded genes. J Mol Evol (2005) 1.38
Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome. Arch Dis Child (1990) 1.38
Desensitization to cytoplasmic Ca2+ and Ca2+ sensitivities of guinea-pig ileum and rabbit pulmonary artery smooth muscle. J Physiol (1989) 1.36
Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure. N Engl J Med (1998) 1.35
Malformative syndrome associated with a ring 10 chromosome and a translocated 10q/19 chromosome. Hum Genet (1978) 1.34
Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia). Eur J Hum Genet (2000) 1.34
A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases. J Med Genet (2001) 1.34
Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie. J Clin Invest (2000) 1.33
MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If. J Clin Invest (2001) 1.33
Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2. FEBS Lett (1999) 1.31
Xeroderma pigmentosum complementation group G associated with Cockayne syndrome. Am J Hum Genet (1993) 1.31
A new variant of the carbohydrate deficient glycoproteins syndrome. J Inherit Metab Dis (1991) 1.31
Anterior pituitary function during critical illness and dopamine treatment. Crit Care Med (1996) 1.30
Clinical review 95: Acute and prolonged critical illness as different neuroendocrine paradigms. J Clin Endocrinol Metab (1998) 1.30
Rett syndrome in adolescent and adult females: clinical and molecular genetic findings. Am J Med Genet A (2003) 1.30
The mutational spectrum of human malignant autosomal recessive osteopetrosis. Hum Mol Genet (2001) 1.29
4-Hydroxybutyric aciduria: application of a fluorometric assay to the determination of succinic semialdehyde dehydrogenase activity in extracts of cultured human lymphoblasts. Clin Chim Acta (1991) 1.29
Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency. J Neurol Neurosurg Psychiatry (2006) 1.27
Laboratory guidelines for molecular diagnosis of Y-chromosomal microdeletions. Int J Androl (1999) 1.27
Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita. Am J Hum Genet (1997) 1.25
Carbohydrate deficient glycoprotein (CDG) syndrome type I. J Med Genet (1997) 1.24
Three-dimensional MR myelography of traumatic injuries of the brachial plexus. AJNR Am J Neuroradiol (1997) 1.24
Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman. Am J Med Genet A (2008) 1.23
Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening. J Neurol (2007) 1.23
Congenital folate malabsorption. Eur J Pediatr (1985) 1.22
Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder: evidence for a linked protective factor. Hum Mol Genet (1998) 1.22
Gamma-aminobutyric acid-transaminase deficiency: a newly recognized inborn error of neurotransmitter metabolism. Neuropediatrics (1984) 1.21
Congenital disorders of glycosylation. Annu Rev Genomics Hum Genet (2001) 1.21
An apparent homozygous X-linked disorder with carbohydrate-deficient serum glycoproteins. Lancet (1987) 1.21
Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation. Am J Hum Genet (1998) 1.20
Precocious pubarche, hyperinsulinism, and ovarian hyperandrogenism in girls: relation to reduced fetal growth. J Clin Endocrinol Metab (1998) 1.19
Prenatal diagnosis in CDG1 families: beware of heterogeneity. Eur J Hum Genet (1998) 1.19
TDP-43 M311V mutation in familial amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry (2009) 1.17
L-2-hydroxyglutaric acidemia: a novel inherited neurometabolic disease. Ann Neurol (1992) 1.16
Prevalence and demographic features of childhood growth hormone deficiency in Belgium during the period 1986-2001. Eur J Endocrinol (2004) 1.13
Early puberty: rapid progression and reduced final height in girls with low birth weight. Pediatrics (2000) 1.13
D90A heterozygosity in the SOD1 gene is associated with familial and apparently sporadic amyotrophic lateral sclerosis. Neurology (1996) 1.12
Reduced uterine and ovarian size in adolescent girls born small for gestational age. Pediatr Res (2000) 1.12
Rett syndrome in females with CTS hot spot deletions: a disorder profile. Am J Med Genet A (2005) 1.11
A mutation in adenylosuccinate lyase associated with mental retardation and autistic features. Nat Genet (1992) 1.11
The value of fast MR imaging as an adjunct to ultrasound in prenatal diagnosis. Eur Radiol (2003) 1.10
Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency. Neuropediatrics (2000) 1.10
Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis. Ann Neurol (2000) 1.09
Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p, and linkage disequilibrium to microsatellite marker D16S406. Hum Mol Genet (1994) 1.09
Kinetic properties and tissular distribution of mammalian phosphomannomutase isozymes. Biochem J (1999) 1.08
Infantile fibrosarcoma. Med Pediatr Oncol (1991) 1.07
Dipropylacetate (valproate) and glycine metabolism. Lancet (1977) 1.07
High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency). Am J Hum Genet (2001) 1.06
Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic. Hum Genet (2000) 1.05