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Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry.
- Published in:
- American Journal of Hematology, 2017, v. 92, n. 9, p. 929, doi. 10.1002/ajh.24801
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- Publication type:
- Article
The history and accomplishments of the ICGG Gaucher registry.
- Published in:
- American Journal of Hematology, 2015, v. 90, p. S2, doi. 10.1002/ajh.24054
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- Publication type:
- Article
Atypical glomerulopathy associated with the cblE inborn error of vitamin B metabolism.
- Published in:
- 2013
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- Publication type:
- Report
Leukoencephalopathy among native indian infants in northern Quebec and Manitoba.
- Published in:
- Annals of Neurology, 1988, v. 24, n. 4, p. 490, doi. 10.1002/ana.410240403
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- Publication type:
- Article
Encephalitis among cree children in northern Quebec.
- Published in:
- Annals of Neurology, 1988, v. 24, n. 4, p. 483, doi. 10.1002/ana.410240402
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- Publication type:
- Article
Microduplications of 16p11.2 are associated with schizophrenia.
- Published in:
- Nature Genetics, 2009, v. 41, n. 11, p. 1223, doi. 10.1038/ng.474
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- Publication type:
- Article
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin.
- Published in:
- Nature Genetics, 2008, v. 40, n. 12, p. 1410, doi. 10.1038/ng.252
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- Publication type:
- Article
Stenosis of the Thoracic Aorta in Williams Syndrome.
- Published in:
- Pediatric Cardiology, 2010, v. 31, n. 6, p. 829, doi. 10.1007/s00246-010-9713-x
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- Publication type:
- Article
MR diffusion imaging and MR spectroscopy of maple syrup urine disease during acute metabolic decompensation.
- Published in:
- Neuroradiology, 2003, v. 45, n. 6, p. 393, doi. 10.1007/s00234-003-0955-7
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- Publication type:
- Article
Cobalamin C deficiency complicated by an atypical glomerulopathy.
- Published in:
- Pediatric Nephrology, 2002, v. 17, n. 10, p. 800, doi. 10.1007/s00467-002-0895-1
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- Publication type:
- Article
Effect of Enzyme Replacement Therapy With Imiglucerase on BMD in Type 1 Gaucher Disease.
- Published in:
- Journal of Bone & Mineral Research, 2007, v. 22, n. 1, p. 119, doi. 10.1359/JBMR.061004
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- Publication type:
- Article
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene.
- Published in:
- Nature Genetics, 1999, v. 23, n. 3, p. 333, doi. 10.1038/15513
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- Publication type:
- Article
Partial splenic embolization in a child with Gaucher disease, massive splenomegaly and severe thrombocytopenia.
- Published in:
- Pediatric Radiology, 2009, v. 39, n. 9, p. 1006, doi. 10.1007/s00247-009-1303-9
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- Publication type:
- Article
Short-Term Safety of Zoledronic Acid in Young Patients With Bone Disorders: An Extensive Institutional Experience.
- Published in:
- 2015
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- Publication type:
- journal article
Revised recommendations for the management of Gaucher disease in children.
- Published in:
- European Journal of Pediatrics, 2013, v. 172, n. 4, p. 447, doi. 10.1007/s00431-012-1771-z
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- Publication type:
- Article
A disease severity scoring system for children with type 1 Gaucher disease.
- Published in:
- European Journal of Pediatrics, 2013, v. 172, n. 1, p. 39, doi. 10.1007/s00431-012-1830-5
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- Publication type:
- Article
Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry.
- Published in:
- European Journal of Pediatrics, 2012, v. 171, n. 6, p. 911, doi. 10.1007/s00431-011-1644-x
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- Publication type:
- Article
Paediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoring.
- Published in:
- 2004
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- Publication type:
- journal article
Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements.
- Published in:
- European Journal of Pediatrics, 2004, v. 163, n. 2, p. 58
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- Publication type:
- Article
Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 1, p. 51, doi. 10.1007/s10545-009-9007-8
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- Publication type:
- Article
Williams Syndrome--Does Early Diagnosis Matter?
- Published in:
- 2002
- By:
- Publication type:
- Editorial
Variable Clinical Manifestations of Xia‐Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1890, doi. 10.1002/ajmg.a.40380
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- Publication type:
- Article
Atypical Williams Syndrome in an Infant with Complete Atrioventricular Canal Defect.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3108, doi. 10.1002/ajmg.a.37288
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- Publication type:
- Article
Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams-Beuren syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 527, doi. 10.1002/ajmg.a.35784
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- Publication type:
- Article
Ventricular Hypertrophy on Electrocardiogram Correlates with Obstructive Lesion Severity in Williams Syndrome.
- Published in:
- Congenital Heart Disease, 2015, v. 10, n. 4, p. 302, doi. 10.1111/chd.12194
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- Publication type:
- Article
A Case Report of Rapid Progressive Coarctation and Severe Middle Aortic Syndrome in an Infant with Williams Syndrome.
- Published in:
- Congenital Heart Disease, 2009, v. 4, n. 5, p. 373, doi. 10.1111/j.1747-0803.2009.00287.x
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- Publication type:
- Article
Williams (Williams Beuren) Syndrome: A Distinct Neurobehavioral Disorder.
- Published in:
- Journal of Child Neurology, 2001, v. 16, n. 3, p. 177, doi. 10.2310/7010.2001.18071
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- Publication type:
- Article
Rhabdomyolysis in the military: recognizing late-onset very long-chain acyl Co-A dehydrogenase deficiency.
- Published in:
- 2006
- By:
- Publication type:
- journal article
Rhabdomyolysis in the Military: Recognizing Late-Onset Very Long-Chain Acyl Co-A Dehydrogenase Deficiency.
- Published in:
- Military Medicine, 2006, v. 171, n. 7, p. 657, doi. 10.7205/MILMED.171.7.657
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- Publication type:
- Article
Safety and effectiveness of taliglucerase alfa in patients with Gaucher disease: an interim analysis of real-world data from a multinational drug registry (TALIAS).
- Published in:
- 2022
- By:
- Publication type:
- journal article