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1

Response to: Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies by Dr. Judith Hall

Piranit Nik Kantaputra, Pranoot Tanpaiboon

Journal:

American Journal of Medical Genetics Part A

Année:

2005

Langue:

english

Fichier:

PDF, 29 KB

english, 2005

2

Oral manifestations of 17 patients affected with mucopolysaccharidosis type VI

Kantaputra, Piranit Nik, Kayserili, Hülya, Güven, Yeliz, Kantaputra, Warissara, Balci, Mehmet C., Tanpaiboon, Pranoot, Uttarilli, Anusha, Dalal, Ashwin

Journal:

Journal of Inherited Metabolic Disease

Année:

2014

Langue:

english

Fichier:

PDF, 735 KB

english, 2014

3

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

Patel, Trusha T., Banugaria, Suhrad G., Frush, Donald P., Enterline, David S., Tanpaiboon, Pranoot, Kishnani, Priya S.

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 291 KB

english, 2013

4

Thyroid dysfunction in a patient with aglossia

Piranit Kantaputra, Pranoot Tanpaiboon

Journal:

American Journal of Medical Genetics Part A

Année:

2003

Langue:

english

Fichier:

PDF, 155 KB

english, 2003

5

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

Piranit N. Kantaputra, Pranoot Tanpaiboon, Kevalee Unachak, Verayuth Praphanphoj

Journal:

American Journal of Medical Genetics Part A

Année:

2004

Langue:

english

Fichier:

PDF, 386 KB

english, 2004

6

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

Piranit N. Kantaputra, Pranoot Tanpaiboon

Journal:

American Journal of Medical Genetics Part A

Année:

2005

Langue:

english

Fichier:

PDF, 139 KB

english, 2005

7

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

Pranoot Tanpaiboon, Rekwan Sittiwangkul, Prapai Dejkhamron, Metawee Srikummool, Warissara Sripathomsawat, Piranit Kantaputra

Journal:

American Journal of Medical Genetics Part A

Année:

2009

Langue:

english

Fichier:

PDF, 160 KB

english, 2009

8

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

Pranoot Tanpaiboon, Piranit Kantaputra, Karn Wejathikul, Wirawit Piyamongkol

Journal:

American Journal of Medical Genetics Part A

Année:

2010

Langue:

english

Fichier:

PDF, 142 KB

english, 2010

9

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

Warissara Sripathomsawat, Pranoot Tanpaiboon, Jan Heering, Volker Dötsch, Raoul C.M. Hennekam, Piranit Kantaputra

Journal:

American Journal of Medical Genetics Part A

Année:

2011

Langue:

english

Fichier:

PDF, 310 KB

english, 2011

10

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

Piranit Kantaputra, Pranoot Tanpaiboon, Thantrira Porntaveetus, Atsushi Ohazama, Paul Sharpe, Anita Rauch, Atiwat Hussadaloy, Christian T. Thiel

Journal:

American Journal of Medical Genetics Part A

Année:

2011

Langue:

english

Fichier:

PDF, 2.62 MB

english, 2011

11

Decreasing Activity and Altered Protein Processing of Human Iduronate-2-sulfatase Mutations Demonstrated by Expression in COS7 Cells

Charoenwattanasatien, Ratana, Cairns, James R. Ketudat, Keeratichamroen, Siriporn, Sawangareetrakul, Phannee, Tanpaiboon, Pranoot, Wattanasirichaigoon, Duangrurdee, Pangkanon, Suthipong, Svasti, Jisnu

Journal:

Biochemical Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 318 KB

english, 2012

12

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

Tanpaiboon, Pranoot, Venditti, Charles P.

Journal:

Journal of Inherited Metabolic Disease

Année:

2013

Langue:

english

Fichier:

PDF, 56 KB

english, 2013

13

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 (ERT)

Chien, Yin-Hsiu, van der Ploeg, Ans, Jones, Simon A., Byrne, Barry, Vellodi, Ashok, Leslie, Nancy, Mengel, Eugen, Shankar, Suma, Tanpaiboon, Pranoot, Stockton, David W., Hennermann, Julia B., Devecser

Journal:

Molecular Genetics and Metabolism

Année:

2014

Langue:

english

Fichier:

PDF, 69 KB

english, 2014

14

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

Kantaputra, Piranit Nik, Kayserili, Hulya, Guven, Yeliz, Kantaputra, Warissara, Balci, Mehmet C., Tanpaiboon, Pranoot, Tananuvat, Napaporn, Uttarilli, Anusha, Dalal, Ashwin

Journal:

American Journal of Medical Genetics Part A

Année:

2014

Langue:

english

Fichier:

PDF, 1.33 MB

english, 2014

15

Isolated methylmalonic acidemia with unusual presentation mimicking diabetic ketoacidosis

Dejkhamron, Prapai, Wejapikul, Karn, Unachak, Kevalee, Sawangareetrakul, Phannee, Tanpaiboon, Pranoot, Wattanasirichaigoon, Duangrurdee

Journal:

Journal of Pediatric Endocrinology and Metabolism

Année:

2015

Langue:

english

Fichier:

PDF, 413 KB

english, 2015

16

Elosulfase alfa for the treatment of mucopolysacchoridosis IVA

Tanpaiboon, Pranoot

Journal:

Expert Review of Endocrinology & Metabolism

Année:

2015

Langue:

english

Fichier:

PDF, 528 KB

english, 2015

17

Clinical characteristics and genotypes in the ADVANCE baseline dataset, a comprehensive cohort of us children and youth with Pompe disease

Kishnani, Priya S., Day, John W., Gambello, Michael, Gibson, James B., Hillman, Richard, Kronn, David, Leslie, Nancy, Pena, Loren, Stockton, David W., Tanpaiboon, Pranoot, Wang, Raymond, Haack, Kristi

Journal:

Molecular Genetics and Metabolism

Année:

2016

Langue:

english

Fichier:

PDF, 52 KB

english, 2016

18

52-week efficacy and safety profile of alglucosidase alfa produced at 4000 liter scale in US patients with Pompe disease: ADVANCE, a phase 4 open-label prospective study

Hahn, Sihoun, Pena, Loren, Day, John W., Gambello, Michael, Gibson, James B., Hillman, Richard, Kronn, David, Stockton, David, Leslie, Nancy, Tanpaiboon, Pranoot, Wang, Raymond, Haack, Kristina An, Sp

Journal:

Molecular Genetics and Metabolism

Année:

2016

Langue:

english

Fichier:

PDF, 54 KB

english, 2016

19

Farber disease is characterized by typical features but a broad phenotypic spectrum: Selected information from a cohort of 37 patients

Solyom, Alexander, Mitchell, John, Ehlert, Karoline, Tanpaiboon, Pranoot, Magnusson, Bo, Grigelioniene, Giedre, Hügle, Boris, Guelbert, Norberto, Arslan, Nur, Makay, Balahan, Ozen, Seza, Batu, Ezgi De

Journal:

Molecular Genetics and Metabolism

Année:

2016

Langue:

english

Fichier:

PDF, 50 KB

english, 2016

20

Lysosomal storage disorders

Tanpaiboon, Pranoot

Journal:

Journal of Pediatric Biochemistry

Année:

2016

Langue:

english

Fichier:

PDF, 872 KB

english, 2016

21

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

Weinstein, Veronique, Tanpaiboon, Pranoot, Chapman, Kimberly A, Ah Mew, Nicholas, Hofherr, Sean

Journal:

Genetics in Medicine

Année:

2017

Langue:

english

Fichier:

PDF, 213 KB

english, 2017

22

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

Kruszka, Paul, Tanpaiboon, Pranoot, Neas, Katherine, Crosby, Kathleen, Berger, Seth I, Martinez, Ariel F, Addissie, Yonit A, Pongprot, Yupada, Sittiwangkul, Rekwan, Silvilairat, Suchaya, Makonkawkeyoo

Journal:

Journal of Medical Genetics

Année:

2017

Langue:

english

Fichier:

PDF, 818 KB

english, 2017

23

Response to Hartley et al. and Mullegama et al.

Tanpaiboon, Pranoot, Chapman, Kimberly A

Journal:

Genetics in Medicine

Année:

2017

Langue:

english

Fichier:

PDF, 71 KB

english, 2017

24

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

Hahn, Si Houn, Kronn, David, Leslie, Nancy D, Pena, Loren D M, Tanpaiboon, Pranoot, Gambello, Michael J, Gibson, James B, Hillman, Richard, Stockton, David W, Day, John W, Wang, Raymond Y, An Haack, K

Journal:

Genetics in Medicine

Année:

2018

Langue:

english

Fichier:

PDF, 334 KB

english, 2018

25

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

Synofzik, Matthis, Helbig, Katherine L., Harmuth, Florian, Deconinck, Tine, Tanpaiboon, Pranoot, Sun, Bo, Guo, Wenting, Wang, Ruiwu, Palmaer, Erika, Tang, Sha, Schaefer, G. Bradley, Gburek-Augustat, J

Journal:

European Journal of Human Genetics

Année:

2018

Langue:

english

Fichier:

PDF, 1.80 MB

english, 2018

26

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)

Vockley, Jerry, Burton, Barbara, Berry, Gerard T., Longo, Nicola, Phillips, John, Sanchez-Valle, Amarilis, Tanpaiboon, Pranoot, Grunewald, Stephanie, Murphy, Elaine, Bowden, Alexandra, Chen, Wencong,

Journal:

Journal of Inherited Metabolic Disease

Année:

2018

Langue:

english

Fichier:

PDF, 707 KB

english, 2018

27

Role of elosulfase alfa in mucopolysaccharidosis IVA

Regier, Debra, Tanpaiboon, Pranoot

Journal:

The Application of Clinical Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 138 KB

english, 2016

28

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

Kazi, Zoheb B., Desai, Ankit K., Troxler, R. Bradley, Kronn, David, Packman, Seymour, Sabbadini, Marta, Rizzo, William B., Scherer, Katalin, Abdul-Rahman, Omar, Tanpaiboon, Pranoot, Nampoothiri, Sheel

Journal:

Genetics in Medicine

Année:

2018

Langue:

english

Fichier:

PDF, 549 KB

english, 2018

29

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)

Vockley, Jerry, Burton, Barbara, Berry, Gerard T., Longo, Nicola, Phillips, John, Sanchez-Valle, Amarilis, Tanpaiboon, Pranoot, Grunewald, Stephanie, Murphy, Elaine, Bowden, Alexandra, Chen, Wencong,

Journal:

Journal of Inherited Metabolic Disease

Année:

2019

Langue:

english

Fichier:

PDF, 1.29 MB

english, 2019

30

Newborn screen for MPS1 (Hurler syndrome) - The Washington, DC experience

Roshan Lal, Tamanna R., Grant, Christina, Crosby, Kathleen, Hicks, Rebecca, Viall, Sarah, Tanpaiboon, Pranoot

Journal:

Molecular Genetics and Metabolism

Année:

2019

Langue:

english

Fichier:

PDF, 45 KB

english, 2019

31

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

Kishnani, Priya S., Gibson, James B., Gambello, Michael J., Hillman, Richard, Stockton, David W., Kronn, David, Leslie, Nancy D., Pena, Loren D. M., Tanpaiboon, Pranoot, Day, John W., Wang, Raymond Y.

Journal:

Genetics in Medicine

Année:

2019

Langue:

english

Fichier:

PDF, 469 KB

english, 2019

32

GARSârelated disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment

Markovitz, Rebecca, Ghosh, Rajarshi, Kuo, Molly E., Hong, William, Lim, Jaehyung, Bernes, Saunder, Manberg, Stephanie, Crosby, Kathleen, Tanpaiboon, Pranoot, BharuchaâGoebel, Diana, Bonnemann, Carst

Journal:

American Journal of Medical Genetics Part A

Année:

2020

Langue:

english

Fichier:

PDF, 3.41 MB

english, 2020

33

Persistent EBV viremia in siblings with lysosomal acid lipase deficiency (LAL-D)

Grant, Christina L., Berger, Seth, Lal, Tamanna Roshan, Crosby, Kathleen, Hicks, Rebecca, Julca, Diana, Rivers, Bryana, Ferreira, Carlos, Tanpaiboon, Pranoot

Journal:

Molecular Genetics and Metabolism

Année:

2020

Fichier:

PDF, 322 KB

2020

34

Practical management of lysosomal storage disorders (LSDs)

Tanpaiboon, Pranoot, Ferreira, Carlos

Journal:

Translational Science of Rare Diseases

Année:

2020

Fichier:

PDF, 133 KB

2020

35

Long-term efficacy and safety of vestronidase alfa enzyme replacement therapy in subjects with mucopolysaccharidosis type VIIâ¯

Lau, Heather, Viskochil, David, Tanpaiboon, Pranoot, Lopez, Antonio Gonzalez-Meneses, Martins, Esmeralda, Taylor, Julie, Cimms, Tricia, Malkus, Betsy C., Chang, Ting, Zhang, Lin, Marsden, Deborah, Jur

Journal:

Molecular Genetics and Metabolism

Année:

2020

Fichier:

PDF, 325 KB

2020

36

Newborn screening for MPS I - An update of the Washington, DC experience

Roshan Lal, Tamanna R., Grant, Christina, Crosby, Kathleen, Hicks, Rebecca, Viall, Sarah, Rivers, Bryana, Julca, Diana, Tanpaiboon, Pranoot

Journal:

Molecular Genetics and Metabolism

Année:

2020

Fichier:

PDF, 59 KB

2020

37

Effects of Triheptanoin ( UX007 ) in Patients with Longâchain Fatty Acid Oxidation Disorders ( LCâFAOD ): Results from an OpenâLabel , LongâTerm Extension Study

Vockley, Jerry, Burton, Barbara, Berry, Gerard, Longo, Nicola, Phillips, John, SanchezâValle, Amarilis, Chapman, Kimberly, Tanpaiboon, Pranoot, Grunewald, Stephanie, Murphy, Elaine, Lu, Xiaoxiao, Ca

Journal:

Journal of Inherited Metabolic Disease

Année:

2020

Fichier:

PDF, 705 KB

2020

38

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

Boonsimma, Ponghatai, Crosby, Kathleen, Mohan, Parvathi, Puscasiu, Elena, Tanpaiboon, Pranoot

Journal:

European Journal of Medical Genetics

Année:

2020

Fichier:

PDF, 1.17 MB

2020