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CASE REPORT: Partial effect of bromocriptine on lactose and galactose synthesis in a pregnant woman heterozygous for galactosaemia.
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 4, p. 507, doi. 10.1023/A:1010537831567
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- Publication type:
- Article
Apolipoprotein E polymorphism and serum concentrations in patients with glycogen storage disease type Ia.
- Published in:
- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 2, p. 107, doi. 10.1023/A:1005605513534
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- Publication type:
- Article
Haemolytic uraemic syndrome and pulmonary hypertension in a patient with methionine synthase deficiency.
- Published in:
- 1999
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- Publication type:
- journal article
Crigler–Najjar type II syndrome may result from several types and combinations of mutations in the UGT1A1 gene.
- Published in:
- 2006
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- Publication type:
- Letter
Allelic heterogeneity of Crigler–Najjar type I syndrome: a study of 24 cases.
- Published in:
- 2004
- By:
- Publication type:
- Letter
Molecular cytogenetic analysis of a Xp21.3-pter deletion in a family with normal and short stature.
- Published in:
- Clinical Genetics, 2002, v. 61, n. 2, p. 163, doi. 10.1034/j.1399-0004.2002.610214.x
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- Publication type:
- Article
Failure of cefotaxime treatment in two children with meningitis caused by highly penicillin-resistant Streptococcus pneumoniae.
- Published in:
- 1995
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- Publication type:
- journal article
Recurrent Enterocolitis-Like Symptoms as the Possible Presenting Manifestations of Neonatal Brucella Melitensis Infection.
- Published in:
- Acta Paediatrica, 1990, v. 79, n. 6/7, p. 707, doi. 10.1111/j.1651-2227.1990.tb11541.x
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- Publication type:
- Article
Human Immunodeficiency Virus-Associated Thrombocytopenia in Infants.
- Published in:
- Acta Paediatrica, 1989, v. 78, n. 5, p. 811, doi. 10.1111/j.1651-2227.1989.tb11154.x
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- Publication type:
- Article
Inter-observer agreement between physicians, nurses, and respiratory therapists for respiratory clinical evaluation in bronchiolitis.
- Published in:
- Pediatric Pulmonology, 2009, v. 44, n. 8, p. 754, doi. 10.1002/ppul.21016
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- Publication type:
- Article
Azathioprine-induced lung toxicity and efficacy of cyclosporin A in a young girl with type 2 autoimmune hepatitis.
- Published in:
- 2000
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- Publication type:
- journal article
Hepatocellular adenomas in glycogen storage disease type I and III: a series of 43 patients and review of the literature.
- Published in:
- 1997
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- Publication type:
- journal article
Serum concentrations of albumin, C-reactive protein, alpha 2-macroglobulin, prealbumin, fibronectin, fibrinogen, transferrin, and retinol binding protein in 55 patients with hepatic glycogen storage diseases.
- Published in:
- 1994
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- Publication type:
- journal article
Bilirubin uridine diphosphate glucuronosyltransferase hepatic activity in jaundice associated with congenital hypothyroidism.
- Published in:
- 1992
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- Publication type:
- journal article
Fatal liver failure in two children with Niemann-Pick disease type B.
- Published in:
- 1991
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- Publication type:
- journal article
Congenital hepatic fibrosis, cystic kidneys, mental retardation, and facial dysmorphy: a new report of an autosomal recessive syndrome.
- Published in:
- 1990
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- Publication type:
- journal article
EP12.01: Noonan syndrome: new features.
- Published in:
- 2016
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- Publication type:
- journal article
Short and long-term acceptability and efficacy of extended-release cornstarch in the hepatic glycogen storage diseases: results from the Glyde study.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03274-y
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- Publication type:
- Article
Are children born after infertility treatment at increased risk of retinoblastoma?
- Published in:
- 2012
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- Publication type:
- Journal Article
Are children born after infertility treatment at increased risk of retinoblastoma?
- Published in:
- Human Reproduction, 2012, v. 27, n. 7, p. 2186, doi. 10.1093/humrep/des149
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- Publication type:
- Article
Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4.
- Published in:
- 2012
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- Publication type:
- Journal Article
Allelic heterogeneity of glycogen storage disease type Ib in French patients: A study of 11 cases.
- Published in:
- Journal of Inherited Metabolic Disease, 2004, v. 27, n. 5, p. 621, doi. 10.1023/B:BOLI.0000042987.43395.c6
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- Publication type:
- Article
Indirect electrochemical reduction of methemoglobin: Design of the process.
- Published in:
- Biotechnology & Bioengineering, 1990, v. 36, n. 4, p. 323, doi. 10.1002/bit.260360402
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- Publication type:
- Article
French national cohort of children born after PGD.
- Published in:
- Reproductive BioMedicine Online (Reproductive Healthcare Limited), 2008, v. 16, p. S-33
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- Publication type:
- Article
Correction to: short and long-term acceptability and efficacy of extended-release cornstarch in the hepatic glycogen storage diseases: results from the Glyde study.
- Published in:
- 2024
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- Publication type:
- Correction Notice
Gene therapy for Crigler Najjar syndrome: results of the dose finding part of the CareCN, phase 1-2 clinical trial.
- Published in:
- Journal of Pediatric Gastroenterology & Nutrition, 2022, v. 74, p. 674, doi. 10.1097/MPG.0000000000003446
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- Publication type:
- Article
Binder phenotype: clinical and etiological heterogeneity of the so-called Binder maxillonasal dysplasia in prenatally diagnosed cases, and review of the literature.
- Published in:
- Prenatal Diagnosis, 2009, v. 29, n. 2, p. 140, doi. 10.1002/pd.2167
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- Publication type:
- Article
Fetal phenotype of Prader-Willi syndrome due to maternal disomy for chromosome 15.
- Published in:
- Prenatal Diagnosis, 2003, v. 23, n. 11, p. 938, doi. 10.1002/pd.732
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- Publication type:
- Article
The gene for the familial form of incontinentia pigmenti (IP2) maps to the distal part of Xq28.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 2, p. 273
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- Publication type:
- Article