Published in Am J Med Genet on July 22, 2002
Management of a patient with holocarboxylase synthetase deficiency. Mol Genet Metab (2008) 0.94
Carnitine transporter and holocarboxylase synthetase deficiencies in The Faroe Islands. J Inherit Metab Dis (2007) 0.93
Gamma-ray up-regulated holocarboxylase synthetase gene. Cell Mol Neurobiol (2008) 0.79
Diagnosis, treatment, follow-up and gene mutation analysis in four Chinese children with biotinidase deficiency. J Inherit Metab Dis (2009) 0.78
Antenatal and postnatal radiologic diagnosis of holocarboxylase synthetase deficiency: a systematic review. Pediatr Radiol (2016) 0.77
Clinical Presentation and Positive Outcome of Two Siblings with Holocarboxylase Synthetase Deficiency Caused by a Homozygous L216R Mutation. JIMD Rep (2013) 0.75
Holocarboxylase synthetase deficiency pre and post newborn screening. Mol Genet Metab Rep (2016) 0.75
Biotin metabolism defect - A case report. Indian J Clin Biochem (2008) 0.75
Msx2 deficiency in mice causes pleiotropic defects in bone growth and ectodermal organ formation. Nat Genet (2000) 3.64
Proposal for a classification of oocytes and follicles in the mouse ovary. J Reprod Fertil (1968) 3.38
Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene. N Engl J Med (1998) 3.28
Eya1-deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordia. Nat Genet (1999) 3.24
Diagnostic criteria for respiratory chain disorders in adults and children. Neurology (2002) 3.12
Antagonistic interactions between FGF and BMP signaling pathways: a mechanism for positioning the sites of tooth formation. Cell (1997) 3.08
Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain. Am J Hum Genet (2000) 3.06
How practical are recommendations for dietary control in phenylketonuria? Lancet (2002) 2.82
Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nat Genet (1998) 2.72
Clinical and molecular findings in children with complex I deficiency. Biochim Biophys Acta (2004) 2.52
MELAS: clinical features, biochemistry, and molecular genetics. Ann Neurol (1992) 2.48
Transcriptional response to hypoxia in human tumors. J Natl Cancer Inst (2001) 2.44
Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism. Nat Genet (2001) 2.43
Reliability of the North Star Ambulatory Assessment in a multicentric setting. Neuromuscul Disord (2009) 2.13
Functional changes in Duchenne muscular dystrophy: a 12-month longitudinal cohort study. Neurology (2011) 2.06
The development of the mouse ovary from birth to maturity. Acta Endocrinol (Copenh) (1969) 2.02
Kidney size in childhood. Sonographical growth charts for kidney length and volume. Pediatr Radiol (1985) 1.92
Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations. Ann Neurol (2000) 1.82
Hepatitis B in chronic kidney disease: moving toward effective prevention. Kidney Int (2008) 1.66
Long-term effects of carvedilol in idiopathic dilated cardiomyopathy with persistent left ventricular dysfunction despite chronic metoprolol. The Heart-Muscle Disease Study Group. J Am Coll Cardiol (1999) 1.51
NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders. J Med Genet (2005) 1.47
Identification of the putative mammalian orthologue of Sec31P, a component of the COPII coat. J Cell Sci (1999) 1.42
[Passive smoking. Concentrations of smoke constituents in the air of large and small rooms as a function of number of cigarettes smoked and time]. Int Arch Arbeitsmed (1972) 1.41
A randomized, prospective trial of stapled lung reduction versus laser bullectomy for diffuse emphysema. J Thorac Cardiovasc Surg (1996) 1.41
Hepatitis C virus antibodies in a long-term follow-up of beta-thalassaemic children with acute and chronic non-A non-B hepatitis. Eur J Pediatr (1992) 1.40
[What is the recurrence rate for Basedow's disease treated with thyrostatic agents. Answers from a prospective study]. Schweiz Med Wochenschr (1990) 1.39
Overexpression of telomerase confers growth advantage, stress resistance, and enhanced differentiation of ESCs toward the hematopoietic lineage. Stem Cells (2005) 1.38
The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies. Am J Hum Genet (1997) 1.37
Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1. Hum Mol Genet (1998) 1.35
Origin of follicle cells in the infant mouse ovary. Fertil Steril (1967) 1.34
Enzyme-linked immunosorbent assay for detection of T-2 toxin. Hoppe Seylers Z Physiol Chem (1982) 1.33
Prospective controlled study of home and hospital therapy of cystic fibrosis pulmonary disease. J Pediatr (1987) 1.32
The gene for cherubism maps to chromosome 4p16. Am J Hum Genet (1999) 1.32
VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis. Mol Genet Metab (2006) 1.29
Charge-related alterations of the cerebral endothelium. Lab Invest (1983) 1.27
Phenotypic features of smooth muscle cells during the evolution of experimental carotid artery intimal thickening. Biochemical and morphologic studies. Lab Invest (1991) 1.25
Recombinant immunoblot in the serodiagnosis of Lyme borreliosis. Comparison with indirect immunofluorescence and enzyme-linked immunosorbent assay. Med Microbiol Immunol (1993) 1.25
Identification of candidate genes involved in neuroblastoma progression by combining genomic and expression microarrays with survival data. Oncogene (2007) 1.24
Fracture faces of cell junctions in cerebral endothelium during normal and hyperosmotic conditions. Lab Invest (1984) 1.24
Targeted disruption of Pax1 defines its null phenotype and proves haploinsufficiency. Proc Natl Acad Sci U S A (1998) 1.22
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). Neurology (2004) 1.19
Migration of gonocytes into the mammalian gonad and their differentiation. Philos Trans R Soc Lond B Biol Sci (1970) 1.19
Follicular growth: the basic event in the mouse and human ovary. J Reprod Fertil (1975) 1.19
Diagnosis of glycogenosis type II. Neurology (2008) 1.16
Molecular characterization of Pax6(2Neu) through Pax6(10Neu): an extension of the Pax6 allelic series and the identification of two possible hypomorph alleles in the mouse Mus musculus. Genetics (2001) 1.13
Myositis ossificans progressiva: a 10-year follow-up on a patient treated with etidronate disodium. Acta Paediatr (1994) 1.13
Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosis. Hum Mol Genet (2000) 1.13
Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers. J Med Genet (2003) 1.12
Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years. J Neurol (2011) 1.11
Reinfection after successful eradication of Helicobacter pylori: a 2-year prospective study in Alaska Natives. Aliment Pharmacol Ther (2006) 1.11
Immunocytochemical localization of enterobacterial common antigen in Escherichia coli and Yersinia enterocolitica cells. J Bacteriol (1986) 1.07
Increased expression of cytokeratins 8, 18 and vimentin in the invasion front of mucosal squamous cell carcinoma. J Pathol (1993) 1.07
[Entrustable professional activities in the internship]. Chirurg (2014) 1.07
Morphological study of the ovaries of leukaemic children. Br J Cancer (1978) 1.07
Angiotensin II, TGF-beta and renal fibrosis. Contrib Nephrol (2001) 1.06
Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy. Am J Hum Genet (1999) 1.06
Follicular development in the infant human ovary. J Reprod Fertil (1974) 1.05
Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington's disease-like phenotype. J Med Genet (2004) 1.05
Functional studies of new GLA gene mutations leading to conformational Fabry disease. Biochim Biophys Acta (2009) 1.05
Sigma factor displacement from RNA polymerase during Bacillus subtilis sporulation. J Bacteriol (1999) 1.03
beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement. Hum Mutat (2000) 1.03
Developmental expression of Pax1/9 genes in urochordate and hemichordate gills: insight into function and evolution of the pharyngeal epithelium. Development (1999) 1.03
Failure of early dextromethorphan and sodium benzoate therapy in an infant with nonketotic hyperglycinemia. Neuropediatrics (1994) 1.02
Impact of strain heterogeneity on Lyme disease serology in Europe: comparison of enzyme-linked immunosorbent assays using different species of Borrelia burgdorferi sensu lato. J Clin Microbiol (1998) 1.01
Biochemical evaluation of a patient with a familial form of leucine-sensitive hypoglycemia and concomitant hyperammonemia. Metabolism (1996) 1.01
Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria. Mol Genet Metab (2000) 1.00
Follicular growth in fetal and prepubertal ovaries of humans and other primates. Clin Endocrinol Metab (1978) 1.00
Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients. J Neurol (2009) 0.99
RNA synthesis in the mouse oocyte. J Cell Biol (1974) 0.99
Influence of irradiation and chemotherapy on the ovaries of children with abdominal tumours. Br J Cancer (1977) 0.99
Hypoxia in a human intracerebral glioma model. J Neurosurg (2000) 0.99
The normal development of the ovary in childhood. Acta Endocrinol (Copenh) (1976) 0.98
SMN protein analysis in fibroblast, amniocyte and CVS cultures from spinal muscular atrophy patients and its relevance for diagnosis. Eur J Hum Genet (1999) 0.97
Early-onset combined methylmalonic aciduria and homocystinuria: neuroradiologic findings. AJNR Am J Neuroradiol (2001) 0.97
beta 1H stimulates mouse-spleen B lymphocytes as demonstrated by increased thymidine incorporation and formation of B cell blasts. Immunobiology (1981) 0.97
The duration of the premeiotic DNA synthesis in mouse oocytes. Exp Cell Res (1965) 0.96
De novo deletion (14)(q11.2q13) including PAX9: clinical and molecular findings. J Med Genet (1999) 0.96
Pre- and post-dialysis quantitative dosage of thymidine in urine and plasma of a MNGIE patient by using HPLC-ESI-MS/MS. J Mass Spectrom (2006) 0.95
Staging urinary bladder cancer after transurethral biopsy: value of fast dynamic contrast-enhanced MR imaging. Radiology (1996) 0.95
Impact of assisted reproduction techniques on neonatal care. Lancet (1991) 0.95
Management and treatment of glycogenosis type II. Neurology (2008) 0.95
Adverse pulmonary effects of mesalamine. Chest (1995) 0.95
Monoclonal antibody detection of IncF group plasmid-encoded TraT protein in clinical isolates of Escherichia coli. Infect Immun (1984) 0.94
The impact of galactosaemia on quality of life--a pilot study. J Inherit Metab Dis (2004) 0.94
Differentiation of C3b receptors on human lymphocytes, phagocytes, erythrocytes and renal glomerulus cells by monoclonal antibodies. Immunology (1982) 0.94