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Tetrahydrobiopterin Responsiveness in Phenylketonuria. Two New Cases and a Review of Molecular Genetic Findings.
- Published in:
- Journal of Inherited Metabolic Disease, 2002, v. 25, n. 1, p. 65, doi. 10.1023/A:1015194002487
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- Publication type:
- Article
Fanconi–Bickel syndrome – A congenital defect of the liver-type facilitative glucose transporter.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 191, doi. 10.1023/A:1005379013406
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- Publication type:
- Article
Fanconi-Bickel syndrome presenting in neonatal screening for galactosaemia.
- Published in:
- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 4, p. 607, doi. 10.1023/A:1005375629820
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- Publication type:
- Article
Treatment of hyperinsulinaemic hypoglycaemia with nifedipine.
- Published in:
- 1999
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- Publication type:
- journal article
Fanconi-Bickel syndrome--the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature.
- Published in:
- 1998
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- Publication type:
- journal article
Glucose metabolism and insulin secretion in a patient with ABCC8 mutation and Fanconi–Bickel syndrome caused by maternal isodisomy of chromosome 3.
- Published in:
- Clinical Genetics, 2007, v. 71, n. 6, p. 551, doi. 10.1111/j.1399-0004.2007.00802.x
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- Publication type:
- Article
Cerebrospinal fluid concentrations of leukotriene B4 in bacterial meningitis.
- Published in:
- 1996
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- Publication type:
- journal article
Urinary excretion of epidermal growth factor and transforming growth factor-alpha in breast-fed and formula-fed infants.
- Published in:
- Acta Paediatrica, 1993, v. 82, n. s385, p. 1024, doi. 10.1111/j.1651-2227.1993.tb12802.x
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- Publication type:
- Article
Further evidence for a dominant form of familial persistent hyperinsulinemic hypoglycemia of infancy: a family with documented hyperinsulinemia in two generations.
- Published in:
- 1998
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- Publication type:
- Case Study
Evaluation of the MERIS aerosol product over land with AERONET.
- Published in:
- Atmospheric Chemistry & Physics Discussions, 2008, v. 8, n. 1, p. 3721, doi. 10.5194/acpd-8-3721-2008
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- Publication type:
- Article
Celiac disease and selective IgA deficiency in a girl with atypical Turner syndrome.
- Published in:
- 1999
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- Publication type:
- Case Study
Williams-Beuren syndrome and celiac disease.
- Published in:
- 1996
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- Publication type:
- Letter
Ursodesoxycholic Acid.
- Published in:
- Journal of Pediatric Gastroenterology & Nutrition, 1994, v. 19, n. 4, p. 476
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- Publication type:
- Article
Celiac disease in Down's syndrome.
- Published in:
- 1991
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- Publication type:
- Case Study
Carbohydrate-containing endothelial cells lining the bulbus arteriosus of teleosts and the conus arteriosus of elasmobranchs (Pisces).
- Published in:
- Journal of Zoology, 1984, v. 202, n. 3, p. 383, doi. 10.1111/j.1469-7998.1984.tb05090.x
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- Publication type:
- Article
Age and sex do not affect the volume, cell numbers, or cell size of the suprachiasmatic nucleus of the rat: An unbiased stereological study.
- Published in:
- Journal of Comparative Neurology, 1995, v. 361, n. 4, p. 585, doi. 10.1002/cne.903610404
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- Publication type:
- Article
Olaparib is effective in combination with, and as maintenance therapy after, first‐line endocrine therapy in prostate cancer cells.
- Published in:
- Molecular Oncology, 2018, v. 12, n. 4, p. 561, doi. 10.1002/1878-0261.12185
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- Publication type:
- Article
A specific ringer solution for the plaice ( Pleuronectes platessa L.).
- Published in:
- Journal of Fish Biology, 1973, v. 5, n. 5, p. 587, doi. 10.1111/j.1095-8649.1973.tb04491.x
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- Publication type:
- Article
Gene transfer into enteric neurons of the rat small intestine in organ culture using a replication defective recombinant herpes simplex virus type 1 (HSV1) vector, but not recombinant adenovirus vectors.
- Published in:
- Gene Therapy, 1997, v. 4, n. 4, p. 331, doi. 10.1038/sj.gt.3300383
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- Publication type:
- Article
Retrieving of particulate matter from optical measurements: A semiparametric approach.
- Published in:
- Journal of Geophysical Research. Atmospheres, 2007, v. 112, n. D6, p. n/a, doi. 10.1029/2005JD006737
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- Publication type:
- Article
Surface pressure estimates from satellite data in the oxygen A-band: Applications to the MOS sensor over land.
- Published in:
- Journal of Geophysical Research. Atmospheres, 2001, v. 106, n. D21, p. 27277, doi. 10.1029/2001JD000401
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- Publication type:
- Article
Retrieval of aerosol single-scattering albedo from ground-based measurements: Application to observational data.
- Published in:
- Journal of Geophysical Research. Atmospheres, 1998, v. 103, n. D8, p. 8753, doi. 10.1029/98JD00276
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- Publication type:
- Article
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.
- Published in:
- 2006
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- Publication type:
- journal article
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.
- Published in:
- 2005
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- Publication type:
- journal article
Interleukin‐4 induces a CD44<sub>high</sub>/CD49b<sub>high</sub> PC3 subpopulation with tumor‐initiating characteristics.
- Published in:
- Journal of Cellular Biochemistry, 2018, v. 119, n. 5, p. 4103, doi. 10.1002/jcb.26607
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- Publication type:
- Article
Human papillomavirus type 16 E7 oncoprotein inhibits apoptosis mediated by nuclear insulin-like growth factor-binding protein-3 by enhancing its ubiquitin/proteasome-dependent degradation.
- Published in:
- Carcinogenesis, 2007, v. 28, n. 12, p. 2511, doi. 10.1093/carcin/bgm199
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- Publication type:
- Article
Neutrophil aggregates in a 13-year-old girl: a rare hematological phenomenon.
- Published in:
- Annals of Hematology, 2003, v. 82, n. 4, p. 251, doi. 10.1007/s00277-003-0627-z
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- Publication type:
- Article
Evaluation of the MERIS aerosol product over land with AERONET.
- Published in:
- Atmospheric Chemistry & Physics, 2008, v. 8, n. 24, p. 7603, doi. 10.5194/acp-8-7603-2008
- By:
- Publication type:
- Article
Propionic acidemia: neonatal versus selective metabolic screening.
- Published in:
- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 1, p. 41, doi. 10.1007/s10545-011-9419-0
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- Publication type:
- Article
Mutation analysis in 54 propionic acidemia patients.
- Published in:
- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 1, p. 51, doi. 10.1007/s10545-011-9399-0
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- Publication type:
- Article
Phenylalanine tolerance in three phenylketonuric women pregnant with fetuses of different genetic PKU status.
- Published in:
- Journal of Inherited Metabolic Disease, 2009, v. 32, p. 1, doi. 10.1007/s10545-008-0910-1
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- Publication type:
- Article
Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop.
- Published in:
- Journal of Inherited Metabolic Disease, 2009, v. 32, n. 4, p. 488, doi. 10.1007/s10545-009-1125-9
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- Publication type:
- Article
Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop.
- Published in:
- Journal of Inherited Metabolic Disease, 2009, v. 32, n. 4, p. 498, doi. 10.1007/s10545-009-1126-8
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- Publication type:
- Article
Elevated serum biotinidase activity in hepatic glycogen storage disorders–A convenient biomarker.
- Published in:
- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 6, p. 896, doi. 10.1007/s10545-007-0734-4
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- Publication type:
- Article
Bilateral nuclear cataracts as the first neonatal sign of Fanconi–Bickel syndrome.
- Published in:
- 2006
- By:
- Publication type:
- Report
Decreased plasma concentration of von Willebrand factor antigen (VWF:Ag) in patients with glycogen storage disease type Ia.
- Published in:
- Journal of Inherited Metabolic Disease, 2005, v. 28, n. 6, p. 945, doi. 10.1007/s10545-005-0184-9
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- Publication type:
- Article
A new fluorimetric enzyme assay for the diagnosis of Niemann–Pick A/B, with specificity of natural sphingomyelinase substrate.
- Published in:
- Journal of Inherited Metabolic Disease, 2005, v. 28, n. 5, p. 733, doi. 10.1007/s10545-005-0105-y
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- Publication type:
- Article
Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2005, v. 28, n. 2, p. 137, doi. 10.1007/s10545-005-7060-5
- By:
- Publication type:
- Article
A novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome detected by neonatal screening for galactosaemia.
- Published in:
- Journal of Inherited Metabolic Disease, 2004, v. 27, n. 2, p. 279, doi. 10.1023/B:BOLI.0000028841.00833.f4
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- Publication type:
- Article
A secondary respiratory chain defect in a patient with Fanconi–Bickel syndrome.
- Published in:
- Journal of Inherited Metabolic Disease, 2002, v. 25, n. 5, p. 379, doi. 10.1023/A:1020147716990
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- Publication type:
- Article
Movember GAP1 PDX project: An international collection of serially transplantable prostate cancer patient‐derived xenograft (PDX) models.
- Published in:
- Prostate, 2018, v. 78, n. 16, p. 1262, doi. 10.1002/pros.23701
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- Publication type:
- Article
Transcriptional coactivators p300 and CBP stimulate estrogen receptor-beta signaling and regulate cellular events in prostate cancer.
- Published in:
- Prostate, 2011, v. 71, n. 4, p. 431, doi. 10.1002/pros.21257
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- Publication type:
- Article
High bone mineral density in pycnodysostotic patients with a novel mutation in the propeptide of cathepsin K.
- Published in:
- Osteoporosis International, 2007, v. 18, n. 5, p. 659, doi. 10.1007/s00198-006-0311-y
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- Publication type:
- Article
Laboratory signs of activated coagulation are common in Henoch-Schönlein purpura.
- Published in:
- Pediatric Nephrology, 2001, v. 16, n. 12, p. 1084, doi. 10.1007/s004670100033
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- Publication type:
- Article
Oncolytic activity of the rhabdovirus VSV‐GP against prostate cancer.
- Published in:
- International Journal of Cancer, 2018, v. 143, n. 7, p. 1786, doi. 10.1002/ijc.31556
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- Publication type:
- Article
Glyceroluria and neonatal hemochromatosis.
- Published in:
- 2012
- By:
- Publication type:
- Journal Article
Development of the human Achilles tendon enthesis organ.
- Published in:
- Journal of Anatomy, 2008, v. 213, n. 6, p. 718, doi. 10.1111/j.1469-7580.2008.00997.x
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- Publication type:
- Article
Adipose tissue at entheses: the innervation and cell composition of the retromalleolar fat pad associated with the rat Achilles tendon.
- Published in:
- Journal of Anatomy, 2007, v. 211, n. 4, p. 436, doi. 10.1111/j.1469-7580.2007.00791.x
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- Publication type:
- Article
The effects of age on the overall population and on subpopulations of myenteric neurons in the rat small intestine.
- Published in:
- Journal of Anatomy, 1998, v. 192, n. 4, p. 479, doi. 10.1046/j.1469-7580.1998.19240479.x
- By:
- Publication type:
- Article
Hyperinsulinism in syndromal disorders.
- Published in:
- Acta Paediatrica, 2001, v. 90, n. 8, p. 856, doi. 10.1111/j.1651-2227.2001.tb02445.x
- By:
- Publication type:
- Article