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Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics
15 auth.
P. Kishnani,
S. Austin,
J. Abdenur,
P. Arn,
D. Bali,
A. Boney,
W. Chung,
A. Dagli,
D. Dale,
D. Koeberl,
...
M. Somers,
S. B. Wechsler,
D. Weinstein,
J. Wolfsdorf,
M. Watson
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8 |
2014 |
8
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Association of demyelination with deficiency of cerebrospinal-fluid S-adenosylmethionine in inborn errors of methyl-transfer pathway
R. Surtees,
J. Leonard,
S. Austin
|
7 |
1991 |
7
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Glycogen Storage Disease Type III diagnosis and management guidelines
17 auth.
P. Kishnani,
S. Austin,
P. Arn,
D. Bali,
A. Boney,
L. Case,
W. Chung,
D. Desai,
A. El-Gharbawy,
R. Haller,
...
G. Smit,
Alastair D. Smith,
L. Hobson‐Webb,
S. B. Wechsler,
D. Weinstein,
Michael S. Watson,
Michael S. Watson
|
7 |
2010 |
7
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|
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The emerging phenotype of late-onset Pompe disease: A systematic literature review.
9 auth.
Justin Chan,
Ankit K. Desai,
Z. Kazi,
Kaitlyn Corey,
S. Austin,
L. Hobson‐Webb,
...
L. Case,
Harrison N Jones,
P. Kishnani
|
7 |
2017 |
7
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|
🐜
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Targeted long-read sequencing identifies missing disease-causing variation.
50 auth.
Danny E. Miller,
Arvis Sulovari,
Tianyun Wang,
Hailey Loucks,
Kendra Hoekzema,
Katherine M. Munson,
Alexandra P. Lewis,
E. A. Fuerte,
C. Paschal,
T. Walsh,
Jenny M Thies,
James T. Bennett,
I. Glass,
K. Dipple,
Karynne E. Patterson,
...
Emily S. Bonkowski,
Zoe Nelson,
Audrey E Squire,
M. Sikes,
Erika Beckman,
R. Bennett,
D. Earl,
Winston Lee,
R. Allikmets,
Seth Perlman,
Penny M. Chow,
A. Hing,
T. Wenger,
M. Adam,
A. Sun,
Christina Lam,
I. Chang,
Xue Zou,
S. Austin,
Erin Huggins,
Alexias Safi,
Apoorva K Iyengar,
Timothy E. Reddy,
William H. Majoros,
A. Allen,
G. Crawford,
P. Kishnani,
M. King,
Timothy J. Cherry,
Jessica X. Chong,
M. Bamshad,
D. Nickerson,
H. Mefford,
D. Doherty,
E. Eichler
|
7 |
2021 |
7
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|
🐜
|
Chromosomal and genetic alterations in human hepatocellular adenomas associated with type Ia glycogen storage disease.
12 auth.
P. Kishnani,
T. Chuang,
D. Bali,
D. Koeberl,
S. Austin,
D. Weinstein,
...
E. Murphy,
Ying‐Ting Chen,
K. Boyette,
Chu-Hao Liu,
Yuan-Tsong Chen,
Ling-Hui Li
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6 |
2009 |
6
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|
|
🐜
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Liver transplantation for glycogen storage disease type Ia.
8 auth.
S. Reddy,
S. Austin,
Michele Spencer-Manzon,
D. Koeberl,
B. Clary,
D. Desai,
...
Alastair D. Smith,
P. Kishnani
|
6 |
2009 |
6
🐜
|
|
🐜
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The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patients
10 auth.
Erin J Feeney,
S. Austin,
Y. Chien,
H. Mandel,
B. Schoser,
Sean N. Prater,
...
W. Hwu,
E. Ralston,
P. Kishnani,
N. Raben
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5 |
2014 |
5
🐜
|
|
🐜
|
Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing
18 auth.
S. Lévesque,
C. Auray-Blais,
Elaine Gravel,
M. Boutin,
Laura Dempsey-Nunez,
P. Jacques,
S. Chénier,
S. Larue,
M. Rioux,
W. Al-Hertani,
...
A. Nadeau,
J. Mathieu,
B. Maranda,
V. Désilets,
P. Waters,
J. Keutzer,
S. Austin,
P. Kishnani
|
5 |
2016 |
5
🐜
|
|
🐜
|
Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene.
10 auth.
D. Bali,
J. Goldstein,
Keri Fredrickson,
C. Rehder,
A. Boney,
S. Austin,
...
D. Weinstein,
Richard E. Lutz,
A. Boneh,
P. Kishnani
|
5 |
2014 |
5
🐜
|
