Ngā hua rapu kaituhi :: APM

1

Argininosuccinate lyase deficiency mā Sandesh C.S. Nagamani, Ayelet Erez, Brendan Lee

I whakaputaina 2012

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Revisão

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2

Argininosuccinate lyase deficiency—Argininosuccinic aciduria and beyond mā Ayelet Erez, Sandesh C. Sreenath Nagamani, Brendan Lee

I whakaputaina 2011

Whiwhi kuputuhi katoa
Revisão

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3

Arginase I deficiency: Severe infantile presentation with hyperammonemia: More common than reported? mā Shailly Jain‐Ghai, Sandesh C.S. Nagamani, Susan Blasér, Komudi Siriwardena, Annette Feigenbaum

I whakaputaina 2011

Whiwhi kuputuhi katoa
Artigo

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4

Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders mā Lindsay C. Burrage, Sandesh C.S. Nagamani, Philippe M. Campeau, Brendan H. Lee

I whakaputaina 2014

Whiwhi kuputuhi katoa
Revisão

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5

Sodium phenylbutyrate decreases plasma branched-chain amino acids in patients with urea cycle disorders mā Lindsay C. Burrage, Mahim Jain, Laura Gandolfo, Brendan H. Lee, Sandesh C.S. Nagamani

I whakaputaina 2014

Whiwhi kuputuhi katoa
Artigo

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6

Approach to the Patient: Pharmacological Therapies for Fracture Risk Reduction in Adults With Osteogenesis Imperfecta mā Winnie Liu, Brendan Lee, Sandesh C.S. Nagamani, Lindsey Nicol, Frank Rauch, Eric T. Rush, V. Reid Sutton, Eric Orwoll

I whakaputaina 2023

Whiwhi kuputuhi katoa
Revisão

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7

Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects mā Julien Baruteau, Carmen Dı́ez-Fernández, Shaul Lerner, Giusy Ranucci, Paul Gissen, Carlo Dionisi‐Vici, Sandesh C.S. Nagamani, Ayelet Erez, Johannes Häberle

I whakaputaina 2019

Whiwhi kuputuhi katoa
Revisão

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8

Early prediction of phenotypic severity in Citrullinemia Type 1 mā Matthias Zielonka, Stefan Kölker, Florian Gleich, Nicolas Stützenberger, Sandesh C.S. Nagamani, Andrea Gropman, Georg F. Hoffmann, Sven F. Garbade, Roland Posset

I whakaputaina 2019

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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9

Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders mā Sandesh C.S. Nagamani, Ayelet Erez, Bruria Ben‐Zeev, Moshe Frydman, Susan Winter, Robert S. Zeller, Dima El‐Khechen, Luis Escobar, Paweł Stankiewicz, Ankita Patel, Sau Wai Cheung

I whakaputaina 2012

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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10

Evaluation of teriparatide treatment in adults with osteogenesis imperfecta mā Eric Orwoll, Jay R. Shapiro, Sandra Veith, Ying Wang, Jodi Lapidus, Chaim Vanek, Jan L. Reeder, Tony M. Keaveny, David C. Lee, Mary A. Mullins, Sandesh C.S. Nagamani, Brendan Lee

I whakaputaina 2014

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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11

Nitric oxide modulates bone anabolism through regulation of osteoblast glycolysis and differentiation mā Zixue Jin, Jordan Kho, Brian Dawson, Ming‐Ming Jiang, Yuqing Chen, Saima Ali, Lindsay C. Burrage, Monica Grover, Donna Palmer, Dustin L. Turner, Philip Ng, Sandesh C.S. Nagamani, Brendan Lee

I whakaputaina 2020

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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12

Human recombinant arginase enzyme reduces plasma arginine in mouse models of arginase deficiency mā Lindsay C. Burrage, Qin Sun, Sarah H. Elsea, Ming‐Ming Jiang, Sandesh C.S. Nagamani, Arthur E. Frankel, Everett Stone, Susan E. Alters, Dale E. Johnson, Scott W. Rowlinson, George Georgiou, Brendan Lee

I whakaputaina 2015

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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13

Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12 mā Sandesh C. Sreenath Nagamani, Ayelet Erez, Joseph Shen, Chumei Li, Elizabeth Roeder, Sarah K. Cox, Lefkothea Karaviti, Margret Pearson, Sung‐Hae Kang, Trilochan Sahoo, Seema R. Lalani, Paweł Stankiewicz, V. Reid Sutton, Sau Wai Cheung

I whakaputaina 2009

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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14

Glycerol phenylbutyrate treatment in children with urea cycle disorders: Pooled analysis of short and long-term ammonia control and outcomes mā Susan A. Berry, Uta Lichter‐Konecki, George A. Díaz, Shawn E. McCandless, William J. Rhead, Wendy E. Smith, Cynthia LeMons, Sandesh C.S. Nagamani, Dion F. Coakley, Masoud Mokhtarani, Bruce F. Scharschmidt, Brendan Lee

I whakaputaina 2014

Whiwhi kuputuhi katoa
Artigo

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15

Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3 mā Shen Gu, Bo Yuan, Ian M. Campbell, Christine R. Beck, Claudia M.B. Carvalho, Sandesh C.S. Nagamani, Ayelet Erez, Ankita Patel, Carlos A. Bacino, Chad A. Shaw, Paweł Stankiewicz, Sau Wai Cheung, Weimin Bi, James R. Lupski

I whakaputaina 2015

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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16

Diversion of aspartate in ASS1-deficient tumours fosters de novo pyrimidine synthesis mā Shiran Rabinovich, Lital N. Adler, Keren Yizhak, Alona Sarver, Alon Silberman, Shani Agron, Noa Stettner, Qin Sun, Alexander Brandis, Daniel Helbling, Stanley H. Korman, Shalev Itzkovitz, David Dimmock, Igor Ulitsky, Sandesh C.S. Nagamani, Eytan Ruppin, Ayelet Erez

I whakaputaina 2015

Whiwhi kuputuhi katoa
Artigo

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17

Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disorders mā Lindsay C. Burrage, Lillian R Thistlethwaite, Bridget M. Stroup, Qin Sun, Marcus J. Miller, Sandesh C.S. Nagamani, William Craigen, Fernando Scaglia, V. Reid Sutton, Brett H. Graham, Adam D. Kennedy, Aleksandar Milosavljević, Brendan Lee, Sarah H. Elsea

I whakaputaina 2019

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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18

Phenotypic Variability of Osteogenesis Imperfecta Type V Caused by an <i>IFITM</i> <i>5</i> Mutation mā Jay R. Shapiro, Caressa Lietman, Monica Grover, James T. Lu, Sandesh C.S. Nagamani, Brian C. Dawson, Dustin Baldridge, Matthew N. Bainbridge, D.H. Cohn, Maria Blazo, Timothy T. Roberts, Feng-Shu Brennen, Yimei Wu, Richard A. Gibbs, Pamela Melvin, Philippe M. Campeau, Brendan Lee

I whakaputaina 2013

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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19

Next-generation sequencing for disorders of low and high bone mineral density mā Gautam Sule, Philippe M. Campeau, V. W. Zhang, Sandesh C.S. Nagamani, Brian C. Dawson, Monica Grover, Carlos A. Bacino, V. Reid Sutton, Nicola Brunetti‐Pierri, James T. Lu, Edmond G. Lemire, Richard A. Gibbs, Daniel H. Cohn, Hong Cui, L. Wong, Brendan H. Lee

I whakaputaina 2013

Whiwhi kuputuhi katoa
Artigo

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20

A cross‐sectional multicenter study of osteogenesis imperfecta in North America – results from the linked clinical research centers mā Ruchita Patel, Sandesh C.S. Nagamani, David Cuthbertson, Philippe M. Campeau, J. Krischer, Jay R. Shapiro, Robert D. Steiner, Peter A. Smith, Michael B. Bober, Peter H. Byers, Melanie Pepin, Michaela Durigova, Francis H. Glorieux, Frank Rauch, B.H. Lee, Tracy Hart, V. Reid Sutton

I whakaputaina 2014

Whiwhi kuputuhi katoa
Artigo

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