Found: 21
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DNA Haplotype Analysis of CAG Repeat in Taiwanese Huntington’s Disease Patients.
- Published in:
- European Neurology, 2004, v. 52, n. 2, p. 96, doi. 10.1159/000079938
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- Publication type:
- Article
Glucose-6-phosphatase gene mutations in Taiwan Chinese patients with glycogen storage disease type Ia.
- Published in:
- Journal of Human Genetics, 2000, v. 45, n. 4, p. 197, doi. 10.1007/s100380070026
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- Publication type:
- Article
Management of Leigh syndrome: Current status and new insights.
- Published in:
- Clinical Genetics, 2018, v. 93, n. 6, p. 1131, doi. 10.1111/cge.13139
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- Publication type:
- Article
Pincer nail deformity as the main manifestation of Clouston syndrome.
- Published in:
- British Journal of Dermatology, 2015, v. 173, n. 2, p. 581, doi. 10.1111/bjd.13703
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- Publication type:
- Article
Experimental treatment of bilateral fetal chylothorax using in-utero pleurodesis.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2012, v. 39, n. 1, p. 56, doi. 10.1002/uog.9048
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- Publication type:
- Article
Subtelomeric rearrangements and 22q11.2 deletion syndrome in anomalous growth-restricted fetuses with normal or balanced G-banded karyotype.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2006, v. 28, n. 7, p. 939, doi. 10.1002/uog.3884
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- Publication type:
- Article
Stabilization of blood methylmalonic acid level in methylmalonic acidemia after liver transplantation.
- Published in:
- Pediatric Transplantation, 2010, v. 14, n. 3, p. 337, doi. 10.1111/j.1399-3046.2009.01227.x
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- Publication type:
- Article
Deficiency of the carnitine transporter (OCTN2) with partial N-acetylglutamate synthase (NAGS) deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 5, p. 816, doi. 10.1007/s10545-007-0594-y
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- Publication type:
- Article
Treatment of Niemann–Pick disease type C in two children with miglustat: Initial responses and maintenance of effects over 1 year.
- Published in:
- Journal of Inherited Metabolic Disease, 2007, v. 30, n. 5, p. 826, doi. 10.1007/s10545-007-0630-y
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- Publication type:
- Article
Pamidronate treatment of severe osteogenesis imperfecta in a newborn infant.
- Published in:
- Journal of Inherited Metabolic Disease, 2002, v. 25, n. 7, p. 593, doi. 10.1023/A:1022099425316
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- Publication type:
- Article
Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutations.
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 8, p. 815, doi. 10.1023/A:1013984022994
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- Publication type:
- Article
Hypercalcaemia in glycogen storage disease type Ia: A case with R83H and 341delG mutations.
- Published in:
- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 8, p. 937, doi. 10.1023/A:1005651809892
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- Publication type:
- Article
Niemann–Pick disease type C (a cellular cholesterol lipidosis) treated by bone marrow transplantation.
- Published in:
- Bone Marrow Transplantation, 1999, v. 24, n. 1, p. 103, doi. 10.1038/sj.bmt.1701826
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- Publication type:
- Article
Identification of eight novel mutations of the acid α-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II.
- Published in:
- Journal of Neurology, 2008, v. 255, n. 6, p. 831, doi. 10.1007/s00415-008-0714-0
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- Publication type:
- Article
Pseudogene-derived IKBKG gene mutations in incontinentia pigmenti.
- Published in:
- Clinical Genetics, 2009, v. 76, n. 4, p. 417, doi. 10.1111/j.1399-0004.2009.01232.x
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- Publication type:
- Article
Two novel mutations in the α-galactosidase A gene in Chinese patients with Fabry disease.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 3, p. 205, doi. 10.1034/j.1399-0004.2003.00050.x
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- Publication type:
- Article
Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type Ia.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 10, p. 2006
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- Publication type:
- Article
High incidence of co‐existing GLA variants and stroke susceptibility.
- Published in:
- 2019
- By:
- Publication type:
- Letter to the Editor
Disease progression in a pre‐symptomatically treated patient with juvenile‐onset Pompe disease – need for an earlier treatment?
- Published in:
- 2018
- By:
- Publication type:
- Case Study
A longitudinal study of Taiwanese Sialidosis type 1: an insight into the concept of cherry-red spot myoclonus syndrome.
- Published in:
- European Journal of Neurology, 2009, v. 16, n. 8, p. 912, doi. 10.1111/j.1468-1331.2009.02622.x
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- Publication type:
- Article
Valproic acid treatment in six patients with spinal muscular atrophy.
- Published in:
- 2007
- By:
- Publication type:
- Letter