Pancreatitis and organic acidemias.

Chronic pancreatitis in branched-chain organic acidurias--a case of methylmalonic aciduria and an overview of the literature. Eur J Pediatr (2010) 0.84

Pancreatitis in patients with organic acidemias. J Pediatr (1994) 1.73

The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nat Genet (1993) 4.70

Cytoreductive surgery combined with perioperative intraperitoneal chemotherapy for the management of peritoneal carcinomatosis from colorectal cancer: a multi-institutional study. J Clin Oncol (2004) 4.15

New multiple congenital anomalies: mental retardation syndrome (MCA/MR) with facio-cutaneous-skeletal involvement. Am J Med Genet (1992) 3.57

Cytoreductive surgery and hyperthermic intraperitoneal chemotherapy in the management of peritoneal surface malignancies of colonic origin: a consensus statement. Society of Surgical Oncology. Ann Surg Oncol (2006) 2.13

Multiorgan autonomic dysfunction in mice lacking the beta2 and the beta4 subunits of neuronal nicotinic acetylcholine receptors. J Neurosci (1999) 2.12

Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses. Am J Hum Genet (1997) 1.79

Hydrocephalus, lissencephaly, ocular abnormalities and congenital muscular dystrophy. A Warburg syndrome variant? Neuropediatrics (1986) 1.61

Clinical and biochemical outcome after hydroxocobalamin dose escalation in a series of patients with cobalamin C deficiency. Mol Genet Metab (2013) 1.50

Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduria. Hum Mol Genet (1998) 1.46

Plasma bubble formation induced by holmium laser: an in vitro study. Urology (2004) 1.42

Neuropaediatrics. Childs Nerv Syst (1995) 1.40

Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome. Hum Mol Genet (1999) 1.40

Immunocytochemistry of muscle cytoskeletal proteins in acid maltase deficiency. Muscle Nerve (1994) 1.39

Frequency and distribution of NF2 mutations in schwannomas. Genes Chromosomes Cancer (1996) 1.34

Increased aggressiveness of thyroid cancer in patients with Graves' disease. J Clin Endocrinol Metab (1990) 1.31

Carbohydrate deficient glycoprotein (CDG) syndrome type I. J Med Genet (1997) 1.24

Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis (2004) 1.14

Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG. First International Workshop on CDGS. Glycoconj J (1999) 1.14

Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase. Pediatr Res (1996) 1.14

Hypomelanosis of Ito: clinical syndrome or just phenotype? J Child Neurol (2000) 1.13

Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers. J Med Genet (2003) 1.12

Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct. Pediatr Res (2000) 1.11

High frequency of cancer in cold thyroid nodules occurring at young age. Acta Endocrinol (Copenh) (1989) 1.10

Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies. Neurology (2010) 1.07

Neurological complications in hospitalized patients with pertussis: a 15-year Sicilian experience. Childs Nerv Syst (1996) 1.06

A survey of the newborn populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan for the G985 variant allele with haplotype analysis at the medium chain Acyl-CoA dehydrogenase gene locus: clinical and evolutionary consideration. Pediatr Res (1997) 1.05

Stop-event-related potentials from intracranial electrodes reveal a key role of premotor and motor cortices in stopping ongoing movements. Front Neuroeng (2012) 1.04

A 24-bp duplication in exon 10 of human chitotriosidase gene from the sub-Saharan to the Mediterranean area: role of parasitic diseases and environmental conditions. Genes Immun (2003) 1.00

Potential relationship between genotype and clinical outcome in propionic acidaemia patients. Eur J Hum Genet (2000) 0.99

Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins. J Inherit Metab Dis (1997) 0.99

The clinical spectrum of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Pediatr Neurol (1996) 0.98

Autism and celiac disease: failure to validate the hypothesis that a link might exist. Biol Psychiatry (1997) 0.98

Interleukin 2 gene therapy of colorectal carcinoma with autologous irradiated tumor cells and genetically engineered fibroblasts: a Phase I study. Clin Cancer Res (1999) 0.98

Consensus guidelines from The American Society of Peritoneal Surface Malignancies on standardizing the delivery of hyperthermic intraperitoneal chemotherapy (HIPEC) in colorectal cancer patients in the United States. Ann Surg Oncol (2013) 0.97

Earliest clinical manifestations and natural history of neurofibromatosis type 2 (NF2) in childhood: a study of 24 patients. Neuropediatrics (2005) 0.97

Negative/low expression of the Met/hepatocyte growth factor receptor identifies papillary thyroid carcinomas with high risk of distant metastases. J Clin Endocrinol Metab (1997) 0.96

Multiple sclerosis in children under 6 years of age. Neurology (1999) 0.96

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency. J Med Genet (2013) 0.96

PAH deficiency in Italy: correlation of genotype with phenotype in the Sicilian population. J Inherit Metab Dis (1996) 0.96

Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretion. J Inherit Metab Dis (1997) 0.95

Magnetic fields increase cell survival by inhibiting apoptosis via modulation of Ca2+ influx. FASEB J (1999) 0.94

Simplified surgical-orthodontic treatment of a dentigerous cyst. J Clin Orthod (1994) 0.94

Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria. Pediatr Neurol (1997) 0.93

Carbohydrate deficient glycoprotein syndrome type I: ophthalmic aspects in four Sicilian patients. Br J Ophthalmol (1994) 0.93

Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses. Am J Med Genet (1997) 0.93

The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. Am J Hum Genet (2001) 0.93

Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene. Clin Genet (2011) 0.93

Arginine supplementation in four patients with X-linked creatine transporter defect. J Inherit Metab Dis (2008) 0.92

Developmental patterns and neuropsychological assessment in patients with carbohydrate-deficient glycoconjugate syndrome type IA (phosphomannomutase deficiency). Brain Dev (1999) 0.92

A new case of multiple mitochondrial enzyme deficiencies with decreased amount of heat shock protein 60. J Inherit Metab Dis (1997) 0.91

Multiple sclerosis in children under 10 years of age. Neurol Sci (2004) 0.91

Effects of temperature and SDS on the structure of beta-glycosidase from the thermophilic archaeon Sulfolobus solfataricus. Biochem J (1997) 0.91

The molecular basis of canavan (aspartoacylase deficiency) disease in European non-Jewish patients. Am J Hum Genet (1995) 0.91

Familial deficiency of two subunits of the first component of complement. C1r and C1s associated with a lupus erythematosus-like disease. Arthritis Rheum (1979) 0.91

A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation. J Neurol (2014) 0.90

Partial trisomy 12q: report of a case and review. J Med Genet (1981) 0.90

Symptomatology of late onset Krabbe's leukodystrophy: the European experience. Dev Neurosci (1991) 0.89

Limb reduction defects in humans associated with prenatal isotretinoin exposure. Teratology (1991) 0.89

Maternal drug ingestion and cyclopia. J Pediatr (1981) 0.89

Epilepsy is not a prominent feature of primary autism. Neuropediatrics (2004) 0.89

Plasma chitotriosidase activity in patients with beta-thalassemia. Blood Cells Mol Dis (1999) 0.89

Acute disseminated encephalomyelitis: a long-term prospective study and meta-analysis. Neuropediatrics (2011) 0.88

Neutrophil gelatinase-associated lipocalin: a novel biomarker for the early diagnosis of acute kidney injury in the emergency department. Eur Rev Med Pharmacol Sci (2009) 0.88

Evidence for genetic heterogeneity in the carbohydrate-deficient glycoprotein syndrome type I (CDG1). Genomics (1996) 0.88

Tuberous sclerosis complex: neonatal deaths in three of four children of consanguineous, non-expressing parents. J Med Genet (1997) 0.88

Seizures in patients with trisomy 21. Am J Med Genet Suppl (1990) 0.88

Proteus syndrome: report of a case with severe brain impairment and fatal course. J Med Genet (1990) 0.88

Glutaric aciduria type I: unusual biochemical presentation. J Pediatr (1992) 0.87

X-Linked creatine transporter deficiency in two patients with severe mental retardation and autism. J Inherit Metab Dis (2006) 0.87

Nicotinic acetylcholine receptors in the autonomic control of bladder function. Eur J Pharmacol (2000) 0.87

Late-onset form of beta-electron transfer flavoprotein deficiency. Mol Genet Metab (2003) 0.87

Extraordinary bone involvement in a gaucher disease type I patient. Br J Haematol (2000) 0.86

Familial bilateral antecubital pterygia with severe renal involvement in nail-patella syndrome. Clin Genet (1993) 0.86

Krabbe leukodystrophy in a selected population with high rate of late onset forms: longer survival linked to c.121G>A (p.Gly41Ser) mutation. Clin Genet (2010) 0.86

Encephalopathy, petechiae, and acrocyanosis with ethylmalonic aciduria associated with muscle cytochrome c oxidase deficiency. J Pediatr (1994) 0.86

PDH E1β deficiency with novel mutations in two patients with Leigh syndrome. J Inherit Metab Dis (2009) 0.86

Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation. JIMD Rep (2014) 0.86

A new case of holocarboxylase synthetase deficiency. J Inherit Metab Dis (1989) 0.86

Autism: evidence of association with adenosine deaminase genetic polymorphism. Neurogenetics (2001) 0.85

Long-term immunotherapy with low-dose interleukin-2 and interferon-alpha in the treatment of patients with advanced renal cell carcinoma. Cancer (2001) 0.85

Clinical and neuroradiological follow-up in mucopolysaccharidosis type III (Sanfilippo syndrome). Neuropediatrics (1999) 0.85

[Cytoreductive surgery and intraperitoneal hyperthermic-antiblastic therapy (HAPP) in peritoneal carcinomatosis]. Minerva Chir (2002) 0.85

Rigid spine syndrome. Some evidence of varying pathological patterns. Helv Paediatr Acta (1983) 0.85

Substrate reduction therapy in the infantile form of Tay-Sachs disease. Neurology (2006) 0.85

In vivo measurement of immunoglobulin accumulation in the pancreas of recent onset type 1 diabetic patients. Clin Exp Rheumatol (1996) 0.85

Autosomal recessive generalized myotonia. Muscle Nerve (1980) 0.85

Linear sebaceous nevus syndrome in a newborn. Am J Dis Child (1974) 0.85

Asymptomatic type II hyperprolinaemia associated with hyperglycinaemia in three sibs. Arch Dis Child (1975) 0.84