about
Benefits of Neuronal Preferential Systemic Gene Therapy for Neurotransmitter DeficiencyTreatment of congenital neurotransmitter deficiencies by intracerebral ventricular injection of an adeno-associated virus serotype 9 vector.Outcome of early-treated type III Gaucher disease patients.Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease.Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening.Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular testsAcute metabolic decompensation and sudden death in Barth syndrome: report of a family and a literature review.Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).Pompe disease in infants: improving the prognosis by newborn screening and early treatment.Diagnosis of aromatic L-amino acid decarboxylase deficiency by measuring 3-O-methyldopa concentrations in dried blood spots.An acidic oligopeptide displayed on AAV2 improves axial muscle tropism after systemic delivery.A limb-girdle myopathy phenotype of RUNX2 mutation in a patient with cleidocranial dysplasia: a case study and literature reviewTime course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency.Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: a muscle magnetic resonance imaging study.Blood Beta-Amyloid and Tau in Down Syndrome: A Comparison with Alzheimer's Disease.Newborn screening for neuropathic lysosomal storage disorders.Pompe disease: early diagnosis and early treatment make a difference.AADC deficiency: occurring in humans, modeled in rodents.A Review of Biomarkers for Alzheimer's Disease in Down SyndromeIntegrated care for Down syndrome.A Neuron-Specific Gene Therapy Relieves Motor Deficits in Pompe Disease Mice.Long-term outcome for Down syndrome patients with hematopoietic disorders.Tet oncogene family member 2 gene alterations in childhood acute myeloid leukemia.Newborn screening for methylmalonic aciduria by tandem mass spectrometry: 7 years' experience from two centers in Taiwan.Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C.Efficacy and safety of intermittent hemodialysis in infants and young children with inborn errors of metabolism.Algorithm for Pompe disease newborn screening: results from the Taiwan screening program.Simultaneous detection of mitochondrial DNA depletion and single-exon deletion in the deoxyguanosine gene using array-based comparative genomic hybridisation.Brain damage by mild metabolic derangements in methylmalonic acidemia.Long-term follow-up of Taiwanese Chinese patients treated early for 6-pyruvoyl-tetrahydropterin synthase deficiency.Long-term follow-up of Chinese patients who received delayed treatment for 6-pyruvoyl-tetrahydropterin synthase deficiency.Reversal of cardiac dysfunction after enzyme replacement in patients with infantile-onset Pompe disease.3-O-methyldopa levels in newborns: Result of newborn screening for aromatic l-amino-acid decarboxylase deficiency.Measuring propionyl-CoA carboxylase activity in phytohemagglutinin stimulated lymphocytes using high performance liquid chromatography.Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year.Regulation of the dopaminergic system in a murine model of aromatic L-amino acid decarboxylase deficiency.Brain development in infantile-onset Pompe disease treated by enzyme replacement therapy.Long-term prognosis of patients with infantile-onset Pompe disease diagnosed by newborn screening and treated since birth.Longitudinal follow-up to evaluate speech disorders in early-treated patients with infantile-onset Pompe disease.Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program.
P50
Q27318185-02F1D0B4-FB62-429D-8FE5-A8FABE7EFFEAQ30574128-F6A33051-087C-4BE9-8039-4DFF8288F459Q33416212-0A51082C-F58A-4175-91C6-E3E3700F4EFAQ33606805-545145CE-1453-46C4-80C1-CA8558896EBFQ34092807-2E107F13-048D-4050-8AC9-1D3833CFA68AQ34581240-CEAABAD5-067C-4E52-96E5-CD4EC98AE2F2Q34582846-00C17B26-E036-4F9A-B78D-BFAAD8D4CCF4Q34993215-2888EC98-16B9-4AC5-9A29-C3F7B72D1D3EQ35015184-04FA9DCC-222F-46AD-9846-DAF16451B456Q35090104-F54B6EF6-1DE9-464B-B8DF-F37C645A9E10Q36156345-CB5C4AA8-9D2C-4AA2-9851-535C35D463A5Q36240998-01724FE5-E088-4BBC-AE72-83D3E4C15275Q36493281-32271DE4-2720-438E-82B6-640DF05882CEQ36907450-6291C0F1-C2D9-4433-9B86-BF6A7690A76CQ37588576-4DCE91A2-71D9-4F90-AC30-37681C824619Q37763610-D6CFFECA-3070-4495-A4E2-B3D8B3FFDD30Q38103090-E8672B3B-B97B-42EF-B028-0250C48F4700Q38140165-B2FB3762-4694-410B-9662-135F097628E1Q38653406-D4D4F78F-2199-444C-9CC9-6D1A4B0CFA4EQ38729246-169B65A5-B433-41DA-9156-FD9815B421A9Q40046102-9EC9C20A-2531-492C-8DEE-08A15B469294Q40669415-B9B61402-466C-40A4-9726-C2E95C65D706Q41297543-BC03E610-7C98-419F-A4DC-82B99B308B90Q42984786-23B93CEF-83EA-4691-8A34-4E53C1135A83Q43607199-DECE09BD-A544-4E4E-BD5C-A9166449683FQ44133179-A2D34749-8BA5-4126-88FD-074916009C8DQ45226102-D65BACB4-A34D-48D1-A8BB-A0B7C0699A8EQ46185761-6A73CD7F-1E73-4A71-96A2-532784AD506BQ46305471-4E69FDC3-AB0E-4936-A18A-4F8B197AB909Q46708875-04B056ED-F801-4554-AD83-1BEF5FC6926EQ46859067-493A64E0-422A-417E-9136-0987044C3E8CQ47678590-FE0B3A0C-46A8-4B89-988D-BBAF306E2B57Q48054627-6D36B267-282C-4F0D-BACE-B66F846CE421Q48069486-FDB33AB7-6C73-438F-B11B-CB1E0638DCE1Q48120123-A9E25A76-CA20-4BE4-AE2C-852985A7C791Q48232715-F489F8A3-2183-4431-9866-072E867A6597Q48466555-51C7F86D-C409-4D55-BD79-E40B85323FE1Q50608296-1625D424-692C-4AA0-8109-087785AF9C10Q51225518-FC80D3EE-2D53-444F-99D3-42FDF8B81C10Q51876865-602461D0-4E28-4732-A86C-1DE1045DDCF2
P50
description
researcher ORCID ID = 0000-0002-5011-7499
@en
wetenschapper
@nl
name
Ni-Chung Lee
@ast
Ni-Chung Lee
@en
Ni-Chung Lee
@es
Ni-Chung Lee
@nl
type
label
Ni-Chung Lee
@ast
Ni-Chung Lee
@en
Ni-Chung Lee
@es
Ni-Chung Lee
@nl
altLabel
NI-CHUNG LEE
@en
prefLabel
Ni-Chung Lee
@ast
Ni-Chung Lee
@en
Ni-Chung Lee
@es
Ni-Chung Lee
@nl
P108
P106
P1153
7402722529
P31
P496
0000-0002-5011-7499