P. Tanpaiboon

发表

Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing: An Interim Report of the Genomic Medicine for Ill Neonates and Infants (GEMINI) Study.

Jill L. Maron, S. Kingsmore, B. Poindexter, 2021, JAMA pediatrics.

Elosulfase alfa for the treatment of mucopolysacchoridosis IVA

P. Tanpaiboon, 2015, Expert review of endocrinology & metabolism.

Practical management of lysosomal storage disorders (LSDs)

P. Tanpaiboon, 2020 .

Cornelia de Lange syndrome in diverse populations

A. R. Porras, I. Krantz, E. Roeder, 2019, American journal of medical genetics. Part A.

Noonan syndrome in diverse populations

A. R. Porras, Yonit A. Addissie, R. Stevenson, 2017, American journal of medical genetics. Part A.

Williams–Beuren syndrome in diverse populations

A. R. Porras, Yonit A. Addissie, A. Adeyemo, 2018, American journal of medical genetics. Part A.

Plasma efavirenz concentrations and the association with CYP2B6-516 G >T polymorphism in HIV-infected Thai children

L. Aurpibul, T. Puthanakit, P. Tanpaiboon, 2008, Antiviral therapy.

Long-term efficacy and safety of vestronidase alfa enzyme replacement therapy in pediatric subjects < 5 years with mucopolysaccharidosis VII.

P. Tanpaiboon, D. Viskochil, E. Martins, 2022, Molecular genetics and metabolism.

Effects of triheptanoin (UX007) in patients with long‐chain fatty acid oxidation disorders: Results from an open‐label, long‐term extension study

J. Vockley, B. Burton, N. Longo, 2020, Journal of inherited metabolic disease.

Acid Ceramidase Deficiency is characterized by a unique plasma cytokine and ceramide profile that is altered by therapy.

John J. Mitchell, P. Lu, J. Medin, 2017, Biochimica et biophysica acta. Molecular basis of disease.

The smallest teeth in the world are caused by mutations in the PCNT gene

P. Tanpaiboon, C. Thiel, A. Rauch, 2011, American journal of medical genetics. Part A.

Phenotypic analysis of Arg227 mutations of TP63 with emphasis on dental phenotype and micturition difficulties in EEC syndrome

R. Hennekam, V. Dötsch, P. Tanpaiboon, 2011, American journal of medical genetics. Part A.

Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort

B. Byrne, S. Colan, D. Stockton, 2021, Cardiology in the Young.

Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study

D. Stockton, M. Gambello, N. Leslie, 2018, Genetics in Medicine.

Thyroid dysfunction in a patient with aglossia

P. Tanpaiboon, P. Kantaputra, 2003, American journal of medical genetics. Part A.

A patient with atypical presentation of chronic hepatosteatosis and developmental delay harboring a novel variant in the CPT1A gene.

P. Tanpaiboon, P. Mohan, Ponghatai Boonsimma, 2020, European journal of medical genetics.

Immune response to enzyme replacement therapies in lysosomal storage diseases and the role of immune tolerance induction.

Yow-Ming C Wang, Anne R. Pariser, J. Bluestone, 2016, Molecular Genetics and Metabolism.

An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease

S. Packman, O. Abdul-Rahman, P. Tanpaiboon, 2018, Genetics in Medicine.

Thyroid functions in children with Down's syndrome.

P. Tanpaiboon, S. Silvilairat, Y. Pongprot, 2008, Journal of the Medical Association of Thailand = Chotmaihet thangphaet.

Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort

D. Stockton, N. Leslie, P. Tanpaiboon, 2022, Journal of neuromuscular diseases.

Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease

D. Stockton, M. Gambello, N. Leslie, 2019, Genetics in Medicine.

Noncompaction of the ventricular myocardium and hydrops fetalis in cobalamin C disease.

C. Venditti, P. Tanpaiboon, D. Mcareavey, 2013, JIMD reports.

Noncompaction of the ventricular myocardium and hydrops fetalis in cobalamin C disease

C. Venditti, P. Tanpaiboon, 2013, Journal of Inherited Metabolic Disease.

Do the data really support ordering fragile X testing as a first-tier test without clinical features?

P. Tanpaiboon, N. Ah Mew, S. Hofherr, 2017, Genetics in Medicine.

Basilar artery aneurysm: A new finding in classic infantile pompe disease

D. Frush, P. Tanpaiboon, P. Kishnani, 2013, Muscle & nerve.

Noonan Syndrome in Thai Children

P. Tanpaiboon, N. Boonchooduang, O. Louthrenoo, 2020, Indian Pediatrics.

Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p.

Nancy F. Hansen, J. Mullikin, N. Hansen, 2010, Blood.

Methylmalonic acidemia (MMA).

P. Tanpaiboon, 2005, Molecular genetics and metabolism.

Isolated methylmalonic acidemia with unusual presentation mimicking diabetic ketoacidosis

P. Tanpaiboon, D. Wattanasirichaigoon, P. Dejkhamron, 2016, Journal of pediatric endocrinology & metabolism : JPEM.

Lysosomal storage disorders

P. Tanpaiboon, 2014, Journal of Pediatric Biochemistry.

Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations

H. Kayserili, P. Tanpaiboon, A. Dalal, 2014, American journal of medical genetics. Part A.

Oral manifestations of 17 patients affected with mucopolysaccharidosis type VI

H. Kayserili, P. Tanpaiboon, A. Dalal, 2014, Journal of Inherited Metabolic Disease.

Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux–Lamy syndrome): under-recognized and challenging to diagnose

B. Burton, K. White, P. Tanpaiboon, 2014, Skeletal Radiology.

c. 595‐596 insC of FOXC2 underlies lymphedema, distichiasis, ptosis, ankyloglossia, and Robin sequence in a Thai patient

P. Tanpaiboon, W. Piyamongkol, P. Kantaputra, 2010, American journal of medical genetics. Part A.

De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function

S. Züchner, P. Bauer, R. Schüle, 2018, European Journal of Human Genetics.

Two novel EBP mutations in Conradi-Hünermann-Happle syndrome.

P. Tanpaiboon, K. Suphapeetiporn, V. Shotelersuk, 2008, European journal of dermatology : EJD.

Mucopolysaccharidosis Type IVA

P. Tanpaiboon, D. Regier, M. Oetgen, 2016 .

Development and validation of a high throughput SARS-CoV-2 whole genome sequencing workflow in a clinical laboratory

Y. Liu, A. Gerasimova, R. Kagan, 2022, Scientific Reports.

Development and Validation of a High-Throughput Next-Generation Sequencing Workflow for SARS-CoV-2 Whole Genome Sequencing: Results from Over 65,000 Clinical Cases

Y. Liu, A. Gerasimova, R. Kagan, 2021 .

Molecular analysis of the iduronate-2-sulfatase gene in Thai patients with Hunter syndrome

P. Tanpaiboon, D. Wattanasirichaigoon, L. Ngiwsara, 2008, Journal of Inherited Metabolic Disease.

UX007 for the treatment of long chain-fatty acid oxidation disorders: Safety and efficacy in children and adults following 24weeks of treatment.

J. Vockley, B. Burton, N. Longo, 2017, Molecular genetics and metabolism.

Oral manifestations in patients and dogs with mucopolysaccharidosis Type VII

P. Tanpaiboon, S. Nampoothiri, Lachlan J. Smith, 2019, American journal of medical genetics. Part A.

R. Ghosh, P. Tanpaiboon, A. Antonellis, 2020, American journal of medical genetics. Part A.

Laboratory diagnostic approaches in metabolic disorders.

P. Tanpaiboon, D. Salazar, R. B. Guerrero, 2018, Annals of translational medicine.

A newly recognized syndrome involving limbs, pelvis, and genital organs or a variant of Al‐Awadi/Raas‐Rothschild syndrome?

P. Tanpaiboon, P. Kantaputra, 2005, American journal of medical genetics. Part A.

Results from a 78‐week, single‐arm, open‐label phase 2 study to evaluate UX007 in pediatric and adult patients with severe long‐chain fatty acid oxidation disorders (LC‐FAOD)

J. Vockley, B. Burton, N. Longo, 2018, Journal of Inherited Metabolic Disease.

Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via Newborn Screening: The benefits of early treatment with enzyme replacement therapy and immune tolerance induction

W. Craigen, P. Tanpaiboon, R. Hopkin, 2021, Genetics in Medicine.

Survival and Developmental Milestones Among Pompe Registry Patients with Classic Infantile-Onset Pompe Disease with Different Timing of Initiation of Treatment with Enzyme Replacement Therapy.

B. Byrne, Y. Chien, D. Stockton, 2014, Journal of neuromuscular diseases.

Results from a 78-week, single-arm, open-label Phase 2 study to evaluate UX007 in pediatric and adult patients with severe long-chain fatty acid oxidation disorders (LC-FAOD)

J. Vockley, B. Burton, N. Longo, 2018, Journal of Inherited Metabolic Disease.

Sustained immune tolerance induction in enzyme replacement therapy-treated CRIM-negative patients with infantile Pompe disease.

O. Abdul-Rahman, P. Tanpaiboon, A. Rosenberg, 2017, JCI insight.

Missense variant contribution to USP9X-female syndrome

M. Shaw, J. Gécz, L. Pérez-Jurado, 2020, npj Genomic Medicine.

Loss of function in ROBO1 is associated with tetralogy of Fallot and septal defects

Yonit A. Addissie, H. Mefford, W. Chung, 2017, Journal of Medical Genetics.

Prenatal diagnosis of diencephalic‐mesencephalic junction dysplasia: Fetal magnetic resonance imaging phenotypes, genetic diagnoses, and outcomes

A. du Plessis, P. Kruszka, M. Muenke, 2021, Prenatal diagnosis.

Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients

K. Katanyuwong, P. Tanpaiboon, N. Jinawath, 2021, BMC Pediatrics.

Expanding the phenotypic spectrum of acro‐cardio‐facial syndrome (ACFS): Exclusion of P63 mutation

P. Tanpaiboon, R. Sittiwangkul, P. Kantaputra, 2009, American journal of medical genetics. Part A.

D. Stockton, M. Gambello, N. Leslie, 2018, Genetics in Medicine.

Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies: Confirmation of a new syndrome

V. Praphanphoj, P. Tanpaiboon, P. Kantaputra, 2004, American journal of medical genetics. Part A.

De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function

S. Züchner, P. Bauer, R. Schüle, 2018, European Journal of Human Genetics.

Role of elosulfase alfa in mucopolysaccharidosis IVA

P. Tanpaiboon, D. Regier, Iva, 2016 .

Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations

H. Kayserili, P. Tanpaiboon, A. Dalal, 2014, American journal of medical genetics. Part A.

Triheptanoin for the treatment of long‐chain fatty acid oxidation disorders: Final results of an open‐label, long‐term extension study

J. Vockley, B. Burton, N. Longo, 2023, Journal of inherited metabolic disease.

Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia

S. Cederbaum, C. Rowland, P. Tanpaiboon, 2021, Molecular genetics and metabolism reports.

Brain function in classic galactosemia, a galactosemia network (GalNet) members review

P. Tanpaiboon, A. Skouma, M. Brouwers, 2024, Frontiers in Genetics.

Brief communication (Original). Rapid diagnosis of trisomy 21 by relative gene copy using real-time quantitative polymerase chain reaction

P. Tanpaiboon, P. Charoenkwan, C. Sanguansermsri, 2014 .

OP017: Triheptanoin for the treatment of Long-Chain Fatty Acid Disorders (LC-FAOD): Final results of an open-label, long-term extension study

J. Vockley, B. Burton, N. Longo, 2022, Genetics in Medicine.

Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort behalf of the Pompe ADVANCE Study Consortium

S. Colan, P. Tanpaiboon, P. Kishnani, 2022 .

Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort behalf of the Pompe ADVANCE Study Consortium

S. Colan, P. Tanpaiboon, P. Kishnani, 2022 .

Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort the Pompe ADVANCE Study Consortium

S. Colan, P. Tanpaiboon, P. Kishnani, 2021 .