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Lista de obras de Wuh-liang Hwu

3-O-methyldopa levels in newborns: Result of newborn screening for aromatic l-amino-acid decarboxylase deficiency.

artículo científico publicado en 2016

A Neuron-Specific Gene Therapy Relieves Motor Deficits in Pompe Disease Mice.

artículo científico publicado en 2017

A Review of Biomarkers for Alzheimer's Disease in Down Syndrome

artículo científico publicado en 2017

A longitudinal study of Taiwanese sialidosis type 1: an insight into the concept of cherry-red spot myoclonus syndrome

artículo científico publicado en 2009

A multicenter, open-label study evaluating safety and clinical outcomes in children (1.4-7.5 years) with Hunter syndrome receiving idursulfase enzyme replacement therapy

artículo científico publicado en 2013

A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a child.

artículo científico publicado en 2012

A promoter sequence variant of ZNF750 is linked with familial psoriasis

artículo científico publicado en 2008

A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease

artículo científico publicado en 2006

A review of aromatic l-amino acid decarboxylase (AADC) deficiency in Taiwan

artículo científico publicado en 2019

A validated disease severity scoring system for adults with type 1 Gaucher disease

artículo científico publicado en 2010

AADC deficiency: occurring in humans, modeled in rodents.

artículo científico publicado en 2013

Acute metabolic decompensation and sudden death in Barth syndrome: report of a family and a literature review.

artículo científico publicado en 2007

Adenoviral interneuronal transportation after retrograde gene transfer in mice.

artículo científico publicado en 2005

Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease

artículo científico publicado en 2017

Algorithm for Pompe disease newborn screening: results from the Taiwan screening program.

artículo científico publicado en 2012

An acidic oligopeptide displayed on AAV2 improves axial muscle tropism after systemic delivery.

artículo científico publicado en 2012

Analysis of lyso-globotriaosylsphingosine in dried blood spots.

artículo científico publicado en 2013

Application of SNaPshot multiplex assays for simultaneous multigene mutation screening in patients with idiopathic sensorineural hearing impairment.

artículo científico publicado en 2009

Arylsulfatase A pseudodeficiency in Chinese

artículo científico publicado en 1996

Association of the Congenital Neuromuscular Form of Glycogen Storage Disease Type IV With a Large Deletion and Recurrent Frameshift Mutation

artículo científico publicado en 2011

Benefits of Neuronal Preferential Systemic Gene Therapy for Neurotransmitter Deficiency

artículo científico publicado en 2015

Bioevaluation of sixteen ADMDP stereoisomers toward alpha-galactosidase A: Development of a new pharmacological chaperone for the treatment of Fabry disease and potential enhancement of enzyme replacement therapy efficiency.

artículo científico publicado en 2016

Blood Beta-Amyloid and Tau in Down Syndrome: A Comparison with Alzheimer's Disease.

artículo científico publicado en 2016

Bone marrow transplantation results in donor-derived hepatocytes in an animal model of inherited cholestatic liver disease

artículo científico publicado en 2008

Brain damage by mild metabolic derangements in methylmalonic acidemia.

artículo científico publicado en 2008

Brain development in infantile-onset Pompe disease treated by enzyme replacement therapy.

artículo científico publicado en 2006

CCL18 as an alternative marker in Gaucher and Niemann-Pick disease with chitotriosidase deficiency

scientific article published on 09 October 2009

Caloric restriction in Alström syndrome prevents hyperinsulinemia.

artículo científico publicado en 2009

Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan

artículo científico publicado en 2019

Cardiac structure and function and effects of enzyme replacement therapy in patients with mucopolysaccharidoses I, II, IVA and VI.

artículo científico publicado en 2016

Carnitine Uptake Defect (Primary Carnitine Deficiency): Risk in Genotype-Phenotype Correlation

artículo científico publicado en 2013

Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012.

artículo científico publicado en 2016

Chubby Face and the Biochemical Parameters for the Early Diagnosis of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency

Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency

artículo científico publicado en 2010

Clinical characteristics of Taiwanese children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency detected by neonatal screening.

artículo científico publicado en 2017

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.

artículo científico publicado en 2011

Clinical, 18F-dopa PET, and genetic analysis of an ethnic Chinese kindred with early-onset parkinsonism and parkin gene mutations

artículo científico publicado en 2002

Clinical, radiological, and genetic characteristics in patients with Huntington's disease in a Taiwanese cohort

artículo científico publicado en 2020

Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiency

artículo científico publicado en 2001

Colocalization in pericentral hepatocytes in adult mice and similarity in developmental expression pattern of ornithine aminotransferase and glutamine synthetase mRNA ⬇️

artículo científico publicado el 1 de noviembre de 1991

Comparison of GATK and DeepVariant by trio sequencing

artículo científico publicado en 2022

Complex rearrangements between chromosomes 6, 10, and 11 with multiple deletions at breakpoints

scientific article published on 01 September 2010

Comprehensive human leukocyte antigen genotyping of patients with type 1 diabetes mellitus in Taiwan

artículo científico publicado en 2018

Congenital Hypopituitarism due to POU1F1 Gene Mutation

article

Congenital Malformations in Newborns—A Challenge Unmet for Decades

artículo científico publicado en 2014

Congenital generalized lipodystrophy in Taiwan.

artículo científico publicado en 2018

Copy number analysis of survival motor neuron genes by multiplex ligation-dependent probe amplification

article

Correlation of Survival Motor Neuron Expression in Leukocytes and Spinal Cord in Spinal Muscular Atrophy

scientific article published on 01 February 2009

Cryptic subtelomeric deletion plus inverted duplication at chromosome 18q in a fetus: molecular delineation by multicolor banding

artículo científico publicado en 2009

Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region.

artículo científico publicado en 2012

Cyclic Pamidronate Infusion for Neonatal-onset Osteogenesis Imperfecta

artículo científico publicado en 2014

Cystathionine gamma-lyase: Clinical, metabolic, genetic, and structural studies

artículo científico publicado en 2009

Cytogenetic study of mentally retarded children in Taipei

artículo científico publicado en 1994

DNA haplotype analysis of CAG repeat in Taiwanese Huntington's disease patients

artículo científico publicado en 2004

Deficiency of the carnitine transporter (OCTN2) with partial N-acetylglutamate synthase (NAGS) deficiency

artículo científico publicado en 2007

Deletion of 11q24.2-qter with agenesis of unilateral internal carotid artery and total anomalous pulmonary venous return

artículo científico publicado en 2001

Detection and imaging of non-contractile inclusions and sarcomeric anomalies in skeletal muscle by second harmonic generation combined with two-photon excited fluorescence

artículo científico publicado en 2008

Development of Newborn Screening for Pompe Disease

scientific article published on 24 January 2020

Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening

artículo científico publicado en 2009

Diagnosing mucopolysaccharidosis IVA

artículo científico publicado en 2013

Diagnosis of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency Using High-Resolution Melting Analysis and a Clinical Scoring System

Diagnosis of aromatic L-amino acid decarboxylase deficiency by measuring 3-O-methyldopa concentrations in dried blood spots

artículo científico publicado en 2014

Differences in the predominance of lysosomal and autophagic pathologies between infants and adults with Pompe disease: implications for therapy

artículo científico publicado en 2010

Distribution, clinical features and treatment in Taiwanese patients with symptomatic primary immunodeficiency diseases (PIDs) in a nationwide population-based study during 1985-2010.

artículo científico publicado en 2011

Dopa-responsive dystonia induced by a recessive GTP cyclohydrolase I mutation.

artículo científico publicado en 1999

Duplication of proteolipid protein gene: a possible major cause of Pelizaeus-Merzbacher disease

artículo científico publicado en 1997

Early Pathologic Changes and Responses to Treatment in Patients With Later-Onset Pompe Disease

article

Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program.

artículo científico publicado en 2008

Early detection of glutaric aciduria type I by newborn screening in Taiwan.

artículo científico publicado en 2008

Efficacy and safety of intermittent hemodialysis in infants and young children with inborn errors of metabolism.

artículo científico publicado en 2013

Elevation of urinary globotriaosylceramide (GL3) in infants with Fabry disease

artículo científico publicado en 2010

Enhanced interpretation of newborn screening results without analyte cutoff values.

artículo científico publicado en 2012

Enzymatic activity of methionine adenosyltransferase variants identified in patients with persistent hypermethioninemia.

artículo científico publicado en 2010

Enzyme replacement therapy for mucopolysaccharidosis VI—experience in Taiwan

scientific article published on 06 October 2010

Establishing a standardized therapeutic testing protocol for spinal muscular atrophy

artículo científico publicado en 2006

Experimental treatment of bilateral fetal chylothorax using in-utero pleurodesis.

artículo científico publicado en 2011

Expert recommendations for the laboratory diagnosis of MPS VI.

artículo científico publicado en 2012

FOXL2 mutations in Taiwanese patients with blepharophimosis, ptosis, epicanthus inversus syndrome.

artículo científico publicado en 2010

Fibrous dysplasia in a child with mitochondrial A8344G mutation

artículo científico publicado en 2008

Fucosidosis in a Chinese girl

article

Fundus abnormalities in a patient with type I Gaucher's disease with 12-year follow-up

artículo científico publicado en 2005

Gene therapy for aromatic L-amino acid decarboxylase deficiency

artículo científico publicado en 2012

Gene therapy with modified U1 small nuclear RNA

article

Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients

artículo científico publicado en 2008

Genetic epidemiological study doesn't support GLA IVS4+919G>A variant is a significant mutation in Fabry disease

artículo científico publicado en 2017

Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program

scientific article published on 28 December 2009

Genome-wide gene expression analysis implicates the immune response and lymphangiogenesis in the pathogenesis of fetal chylothorax

artículo científico publicado en 2012

Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type Ia

artículo científico publicado en 1995

Glycogen storage disease type Ib: the first case in Taiwan.

artículo científico publicado en 2009

Glypican-3 induces oncogenicity by preventing IGF-1R degradation, a process that can be blocked by Grb10.

artículo científico publicado en 2017

Hepatic steatosis and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Taiwanese infants.

artículo científico publicado en 2006

Hereditary progressive dystonia with marked diurnal fluctuation (Segawa syndrome) in Taiwan

artículo científico publicado en 1994

Homozygous SLC25A13 Mutation in a Taiwanese Patient with Adult-onset Citrullinemia Complicated with Steatosis and Hepatocellular Carcinoma

scientific article published on 01 October 2006

How well does urinary lyso-Gb3 function as a biomarker in Fabry disease?

artículo científico publicado en 2010

Hsp27 decreases inclusion body formation from mutated GTP-cyclohydrolase I protein

artículo científico publicado en 2008

Hyperammonemia and positive allopurinol test in hyperinsulinism-hyperammonemia syndrome: Taiwanese case report

scientific article published on 01 April 2009

Hypercalcaemia in glycogen storage disease type Ia: a case with R83H and 341delG mutations

artículo científico publicado en 1999

Hypothermia improves disease manifestations in SMA mice via SMN augmentation.

artículo científico publicado en 2015

IGF-1 delivery to CNS attenuates motor neuron cell death but does not improve motor function in type III SMA mice

artículo científico publicado en 2011

Identification and characterization of -3c-g acceptor splice site mutation in human α- l-iduronidase associated with mucopolysaccharidosis type IH/S

scientific article published on 01 February 2000

Identification and management of cardiac perforation from a double lumen catheter in an infant

artículo científico publicado en 2007

Identification of eight novel mutations of the acid α-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II

article

Identification of forty-five novel and twenty-three knownNF1 mutations in Chinese patients with neurofibromatosis type 1

artículo científico publicado en 2006

In vitro DNA methylation inhibits FMR-1 promoter.

artículo científico publicado en 1993

Incidence of severe combined immunodeficiency through newborn screening in a Chinese population

artículo científico publicado en 2013

Incidence of the mucopolysaccharidoses in Taiwan, 1984-2004

artículo científico publicado en 2009

Integrated care for Down syndrome

artículo científico publicado en 2016

Integrating human genome database into electronic health record with sequence alignment and compression mechanism.

artículo científico publicado en 2011

Introduction to the Newborn Screening, Diagnosis, and Treatment for Pompe Disease Guidance Supplement

artículo científico publicado en 2017

Lack of mutations in spinocerebellar ataxia type 2 and 3 genes in a Taiwanese (ethnic Chinese) cohort of familial and early-onset parkinsonism

article

Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: Diagnosis and novel mutation revealed by exome sequencing

scientific article published on 16 October 2012

Later-onset Pompe disease: early detection and early treatment initiation enabled by newborn screening.

artículo científico publicado en 2011

Left Ventricular Geometry, Global Function, and Dyssynchrony in Infants and Children With Pompe Cardiomyopathy Undergoing Enzyme Replacement Therapy

artículo científico publicado en 2011

Linkage disequilibrium and linkage analysis of the glucose-6-phosphatase gene

article

Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C.

artículo científico publicado en 2012

Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series

artículo científico publicado en 2016

Long-term outcome for Down syndrome patients with hematopoietic disorders

artículo científico publicado en 2015

Long-term prognosis of patients with infantile-onset Pompe disease diagnosed by newborn screening and treated since birth.

artículo científico publicado en 2014

Longitudinal follow-up to evaluate speech disorders in early-treated patients with infantile-onset Pompe disease.

artículo científico publicado en 2016

Lung toxicity of hydroxypropyl-β-cyclodextrin infusion

article

Lyso-globotriaosylsphingosine (lyso-Gb3) levels in neonates and adults with the Fabry disease later-onset GLA IVS4+919G>A mutation

artículo científico publicado en 2012

MRI in a case of adult-onset citrullinemia.

artículo científico publicado en 2001

Mapping of psoriasis to 17q terminus.

artículo científico publicado en 2005

Miglustat in patients with Niemann-Pick disease Type C (NP-C): a multicenter observational retrospective cohort study

artículo científico publicado en 2009

Mitral annuloplasty in an infant with Barth syndrome and severe mitral insufficiency: First case report and determination of annular diameter

artículo científico publicado en 2008

Molecular genetic study of Pompe disease in Chinese patients in Taiwan

scientific article published on 01 January 1999

Molecular genetics of glycogen-storage disease type 1a in Chinese patients of Taiwan

artículo científico publicado en 2001

Mortality, disability, and intensive care in patients with mitochondrial 3243A>G mutation

artículo científico publicado en 2015

Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes

artículo científico publicado en 2015

Multimodel assessment of BRCA1 mutations in Taiwanese (ethnic Chinese) women with early-onset, bilateral or familial breast cancer

artículo científico publicado en 2012

Mutant EXT1 in Taiwanese Patients with Multiple Hereditary Exostoses.

artículo científico publicado en 2014

Mutation analysis of Gaucher disease patients in Taiwan: High prevalence of the RecNciI and L444P mutations

scientific article published on 20 March 2006

Mutation of mitochondrial DNA G13513A presenting with Leigh syndrome, Wolff-Parkinson-White syndrome and cardiomyopathy.

artículo científico publicado en 2008

Mutation screening of the EYA1, SIX1, and SIX5 genes in an East Asian cohort with branchio-oto-renal syndrome.

artículo científico publicado en 2012

Mutation-adapted U1 snRNA corrects a splicing error of the dopa decarboxylase gene

artículo científico publicado en 2016

Myopathy in Gaucher disease

artículo científico publicado en 2008

Myostatin and insulin-like growth factor I: potential therapeutic biomarkers for pompe disease

artículo científico publicado en 2013

Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan

artículo científico publicado en 2010

Natural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVA.

scientific article published on 10 February 2014

Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study.

artículo científico publicado en 2009

Neonatal type of nonketotic hyperglycinemia

artículo científico publicado en 1999

Newborn Screening for Phenylketonuria: Machine Learning vs Clinicians

scholarly article published August 2012

Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry.

artículo científico publicado en 2010

Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).

artículo científico publicado en 2009

Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns

scientific article published on 03 February 2020

Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests

artículo científico publicado en 2013

Newborn screening for methylmalonic aciduria by tandem mass spectrometry: 7 years' experience from two centers in Taiwan.

artículo científico publicado en 2010

Newborn screening for neuropathic lysosomal storage disorders.

artículo científico publicado en 2010

Outcome of early-treated type III Gaucher disease patients

artículo científico publicado en 2014

Outcome of pulmonary and aortic stenosis in Williams-Beuren syndrome in an Asian cohort

artículo científico publicado en 2007

PSORS2 is due to mutations in CARD14.

artículo científico publicado en 2012

Pamidronate treatment of severe osteogenesis imperfecta in a newborn infant.

artículo científico publicado en 2002

Parental discussion of G6PD deficiency and child health: implications for clinical practice

article

Parkin mutations and early-onset parkinsonism in a Taiwanese cohort

artículo científico publicado en 2005

Performance of the Four-Plex Tandem Mass Spectrometry Lysosomal Storage Disease Newborn Screening Test: The Necessity of Adding a 2nd Tier Test for Pompe Disease

artículo científico publicado en 2018

Phenotypic Analyses and Mutation Screening of the SLC26A4 and FOXI1 Genes in 101 Taiwanese Families with Bilateral Nonsyndromic Enlarged Vestibular Aqueduct (DFNB4) or Pendred Syndrome

article

Pincer nail deformity as the main manifestation of Clouston syndrome

artículo científico publicado en 2015

Plasma chitotriosidase activity and malaria.

artículo científico publicado en 2005

Pompe disease in infants: improving the prognosis by newborn screening and early treatment.

artículo científico publicado en 2009

Pompe disease: early diagnosis and early treatment make a difference.

artículo científico

Poor outcome for neonatal-type nonketotic hyperglycinemia treated with high-dose sodium benzoate and dextromethorphan.

artículo científico publicado en 2004

Preimplantation and prenatal genetic diagnosis of aromatic L-amino acid decarboxylase deficiency with an amplification refractory mutation system-quantitative polymerase chain reaction.

artículo científico publicado en 2011

Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening

artículo científico publicado en 2017

Prevalence of the FMR1 mutation in Taiwan assessed by large-scale screening of newborn boys and analysis of DXS548-FRAXAC1 haplotype.

artículo científico publicado en 2005

Prominent vacuolation of the eyelid levator muscle in an early-treated child with infantile-onset Pompe disease

artículo científico publicado en 2014

Promising outcomes in glutaric aciduria type I patients detected by newborn screening.

artículo científico publicado en 2012

Pseudogene-derivedIKBKGgene mutations in incontinentia pigmenti

artículo científico publicado en 2009

RNA-seq of peripheral blood mononuclear cells of congenital generalized lipodystrophy type 2 patients

publication published on 13 October 2021

Rapid progressive course of later-onset Pompe disease in Chinese patients

artículo científico publicado en 2011

Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease

artículo científico publicado en 2007

Reduction in imiglucerase dosage causes immediate rise of chitotriosidase activity in patients with Gaucher disease

artículo científico publicado en 2010

Regulation of GTP cyclohydrolase I by alternative splicing in mononuclear cells

artículo científico publicado en 2003

Regulation of the dopaminergic system in a murine model of aromatic L-amino acid decarboxylase deficiency.

artículo científico publicado en 2012

Relationships among Height, Weight, Body Mass Index, and Age in Taiwanese Children with Different Types of Mucopolysaccharidoses

artículo científico publicado en 2019

Reversal of cardiac dysfunction after enzyme replacement in patients with infantile-onset Pompe disease.

artículo científico publicado en 2009

Reye's syndrome developing in an infant on treatment of Kawasaki syndrome

artículo científico publicado en 2005

SHOX deficiency in short Taiwanese children: A single-center experience.

artículo científico publicado en 2017

Schizencephaly in LEOPARD syndrome.

artículo científico publicado en 2009

Screening assay of very long chain fatty acids in human plasma with multiwalled carbon nanotube-based surface-assisted laser desorption/ionization mass spectrometry

artículo científico publicado en 2010

Screening of nine SLC25A13 mutations: their frequency in patients with citrin deficiency and high carrier rates in Asian populations

article

Simultaneous detection of mitochondrial DNA depletion and single-exon deletion in the deoxyguanosine gene using array-based comparative genomic hybridisation.

artículo científico publicado en 2009

Six novel NPC1 mutations in Chinese patients with Niemann-Pick disease type C.

artículo científico publicado en 2005

Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: a muscle magnetic resonance imaging study.

artículo científico publicado en 2016

Somatic and germ-line mosaicism in Rubinstein-Taybi syndrome.

artículo científico publicado en 2009

Spectrum of hypermethioninemia in neonatal screening.

artículo científico publicado en 2004

Spontaneous chylothorax in a case of cardio-facio-cutaneous syndrome

artículo científico publicado en 2002

Stabilization of blood methylmalonic acid level in methylmalonic acidemia after liver transplantation.

artículo científico publicado en 2009

Subtelomeric rearrangements and 22q11.2 deletion syndrome in anomalous growth-restricted fetuses with normal or balanced G-banded karyotype

scientific article published on 01 December 2006

Systemic administration of a recombinant AAV1 vector encoding IGF-1 improves disease manifestations in SMA mice

artículo científico publicado en 2014

Tandem Mass Neonatal Screening in Taiwan—Report from One Center

scientific article published on 01 November 2006

The Genetics of Atopic Dermatitis

article

The Initial Evaluation of Patients After Positive Newborn Screening: Recommended Algorithms Leading to a Confirmed Diagnosis of Pompe Disease

artículo científico publicado en 2017

The Timely Needs for Infantile Onset Pompe Disease Newborn Screening-Practice in Taiwan

artículo científico publicado en 2020

The controversy regarding diagnostic criteria for early myoclonic encephalopathy.

artículo científico publicado en 1998

The use of dried blood spot samples in the diagnosis of lysosomal storage disorders--current status and perspectives.

artículo científico

The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patients

artículo científico publicado en 2014

Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency

artículo científico publicado en 2006

Torsade de pointes ventricular tachycardia during elective intubation in a patient with Pompe disease.

artículo científico publicado en 2008

Transfusion-acquired cytomegalovirus infection in children in a hyperendemic area.

artículo científico publicado en 1992

Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutations

artículo científico publicado en 2001

Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year.

artículo científico publicado en 2007

Treatment of congenital neurotransmitter deficiencies by intracerebral ventricular injection of an adeno-associated virus serotype 9 vector

artículo científico publicado en 2014

Two novel mutations in the alpha-galactosidase A gene in Chinese patients with Fabry disease

artículo científico publicado en 2003

Type I Gaucher disease with exophthalmos and pulmonary arteriovenous malformation

artículo científico publicado en 2005

Unusual spinal cord lesions in late-onset non-ketotic hyperglycinemia

artículo científico publicado en 2011

Valproic acid treatment in six patients with spinal muscular atrophy

artículo científico publicado en 2007

Web-based newborn screening system for metabolic diseases: machine learning versus clinicians

artículo científico publicado en 2013

X-linked liver glycogenosis in a Taiwanese family: transmission from undiagnosed males

artículo científico publicado en 2009

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