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1
Pompe disease diagnosis and management guideline
Pompe disease diagnosis and management guideline
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Pompe disease diagnosis and management guideline

Kishnani, Priya S ; Steiner, Robert D ; Bali, Deeksha ; Berger, Kenneth ; Byrne, Barry J ; Case, Laura E ; Case, Laura ; Crowley, John F ; Downs, Steven ; Howell, R Rodney ; Kravitz, Richard M ; Mackey, Joanne ; Marsden, Deborah ; Martins, Anna Maria ; Millington, David S ; Nicolino, Marc ; O'Grady, Gwen ; Patterson, Marc C ; Rapoport, David M ; Slonim, Alfred ; Spencer, Carolyn T ; Tifft, Cynthia J ; Watson, Michael S

Genetics in medicine, 2006-05, Vol.8 (5), p.267-288 [Periódico revisado por pares]

United States: Lippincott, Williams & Wilkins

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2
Long-term monitoring of patients with infantile-onset Pompe disease on enzyme replacement therapy using a urinary glucose tetrasaccharide biomarker
Long-term monitoring of patients with infantile-onset Pompe disease on enzyme replacement therapy using a urinary glucose tetrasaccharide biomarker
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Long-term monitoring of patients with infantile-onset Pompe disease on enzyme replacement therapy using a urinary glucose tetrasaccharide biomarker

Young, Sarah P ; Zhang, Haoyue ; Corzo, Deyanira ; Thurberg, Beth L ; Bali, Deeksha ; Kishnani, Priya S ; Millington, David S

Genetics in medicine, 2009-07, Vol.11 (7), p.536-541 [Periódico revisado por pares]

United States

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3
Early, sustained efficacy of adeno-associated virus vector-mediated gene therapy in glycogen storage disease type Ia
Early, sustained efficacy of adeno-associated virus vector-mediated gene therapy in glycogen storage disease type Ia
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Early, sustained efficacy of adeno-associated virus vector-mediated gene therapy in glycogen storage disease type Ia

KOEBERL, D. D ; SUN, B. D ; BEATY, R. M ; CHEN, Y. T ; DAMODARAN, T. V ; BROWN, T ; MILLINGTON, D. S ; BENJAMIN, D. K ; BIRD, A ; SCHNEIDER, A ; HILLMAN, S ; JACKSON, M

Gene therapy, 2006-09, Vol.13 (17), p.1281-1289 [Periódico revisado por pares]

Basingstoke: Nature Publishing Group

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4
Disentangling oncogenic amplicons in esophageal adenocarcinoma
Disentangling oncogenic amplicons in esophageal adenocarcinoma
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Disentangling oncogenic amplicons in esophageal adenocarcinoma

Ng, Alvin Wei Tian ; McClurg, Dylan Peter ; Wesley, Ben ; Zamani, Shahriar A ; Black, Emily ; Miremadi, Ahmad ; Giger, Olivier ; Hoopen, Rogier Ten ; Devonshire, Ginny ; Redmond, Aisling M ; Grehan, Nicola ; Jammula, Sriganesh ; Blasko, Adrienn ; Li, Xiaodun ; Aparicio, Samuel ; Tavaré, Simon ; Nowicki-Osuch, Karol ; Fitzgerald, Rebecca C

Nature communications, 2024-05, Vol.15 (1), p.4074-4074 [Periódico revisado por pares]

England: Nature Publishing Group

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5
Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening
Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening
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Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening

PEDERSEN, Christina B ; BISCHOFF, Claus ; WANDERS, Ronald J. A ; RUITER, Jos P. N ; KEPPEN, Laura D ; STEIN, Quinn ; KNUDSEN, Inga ; GREGERSEN, Niels ; ANDRESEN, Brage S ; CHRISTENSEN, Ernst ; SIMONSEN, Henrik ; LUND, Allan M ; YOUNG, Sarah P ; KOEBERL, Dwight D ; MILLINGTON, David S ; ROE, Charles R ; ROE, Diane S

Pediatric research, 2006-09, Vol.60 (3), p.315-320 [Periódico revisado por pares]

Hagerstown, MD: Lippincott Williams & Wilkins

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6
2-Methylbutyryl-coenzyme A dehydrogenase deficiency : A new inborn error of L-isoleucine metabolism
2-Methylbutyryl-coenzyme A dehydrogenase deficiency : A new inborn error of L-isoleucine metabolism
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2-Methylbutyryl-coenzyme A dehydrogenase deficiency : A new inborn error of L-isoleucine metabolism

GIBSON, K. M ; BURLINGAME, T. G ; LINCK, L ; POHOWALLA, P ; SACKS, M ; KISS, D ; RINALDO, P ; VOCKLEY, J ; HOGEMA, B ; JAKOBS, C ; SCHUTGENS, R. B. H ; MILLINGTON, D ; ROE, C. R ; ROE, D. S ; SWEETMAN, L ; STEINER, R. D

Pediatric research, 2000-06, Vol.47 (6), p.830-833 [Periódico revisado por pares]

Hagerstown, MD: Lippincott Williams & Wilkins

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7
Early, sustained efficacy of adeno-associated virus vector-mediated gene therapy in glycogen storage disease type Ia
Early, sustained efficacy of adeno-associated virus vector-mediated gene therapy in glycogen storage disease type Ia
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Early, sustained efficacy of adeno-associated virus vector-mediated gene therapy in glycogen storage disease type Ia

Koeberl, D D ; Sun, B D ; Damodaran, T V ; Brown, T ; Millington, D S ; Benjamin, Jr, D K ; Bird, A ; Schneider, A ; Hillman, S ; Jackson, M ; Beaty, R M ; Chen, Y T

Gene therapy, 2007-02, Vol.14 (3), p.281-281 [Periódico revisado por pares]

Houndmills: Nature Publishing Group

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8
Early, sustained efficacy of adeno-associated virus vector-mediated gene therapy in glycogen storage disease type Ia
Early, sustained efficacy of adeno-associated virus vector-mediated gene therapy in glycogen storage disease type Ia
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Early, sustained efficacy of adeno-associated virus vector-mediated gene therapy in glycogen storage disease type Ia

Koeberl, D D ; Sun, B D ; Damodaran, T V ; Brown, T ; Millington, D S ; Benjamin, Jr, D K ; Bird, A ; Schneider, A ; Hillman, S ; Jackson, M ; Beaty, R M ; Chen, Y T

Gene therapy, 2006-10, Vol.13 (19), p.1430-1430 [Periódico revisado por pares]

Houndmills: Nature Publishing Group

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9
Short-chain acyl-coenzyme A dehydrogenase deficiency in mice
Short-chain acyl-coenzyme A dehydrogenase deficiency in mice
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Short-chain acyl-coenzyme A dehydrogenase deficiency in mice

WOOD, P. A ; AMENDT, B. A ; RHEAD, W. J ; MILLINGTON, D. S ; INOUE, F ; ARMSTRONG, D

Pediatric research, 1989, Vol.25 (1), p.38-43 [Periódico revisado por pares]

Hagerstown, MD: Lippincott Williams & Wilkins

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10
Erratum: Early, sustained efficacy of adeno-associated virus vector-mediated gene therapy in glycogen storage disease type Ia
Erratum: Early, sustained efficacy of adeno-associated virus vector-mediated gene therapy in glycogen storage disease type Ia
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Erratum: Early, sustained efficacy of adeno-associated virus vector-mediated gene therapy in glycogen storage disease type Ia

Koeberl, D D ; Sun, B D ; Damodaran, T V ; Brown, T ; Millington, D S ; Benjamin, D K ; Bird, A ; Schneider, A ; Hillman, S ; Jackson, M ; Beaty, R M ; Chen, Y T

Gene therapy, 2007-02, Vol.14 (3), p.281-281 [Periódico revisado por pares]

Houndmills: Nature Publishing Group

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