| 1 |
Divergent clinical outcomes of alpha-glucosidase enzyme replacement therapy in two siblings with infantile-onset Pompe disease treated in the symptomatic or pre-symptomatic state.
61
|
Matsuoka T...Umeda Y
|
27896132 |
2016 |
| 2 |
Autophagy and mitochondria in Pompe disease: nothing is so new as what has long been forgotten.
61
|
Raben N...Myerowitz R
|
22253254 |
2012 |
| 3 |
Infantile hypotonia with failure to thrive.
61
|
Nagiub M...Anne P
|
23569532 |
2012 |
| 4 |
Danon disease: intrafamilial phenotypic variability related to a novel LAMP-2 mutation.
61
|
Cottinet SL...Labarthe F
|
21161685 |
2011 |
| 5 |
Bioinformatic and biochemical studies point to AAGR-1 as the ortholog of human acid alpha-glucosidase in Caenorhabditis elegans.
61
|
Sikora J...Hrebicek M
|
20349118 |
2010 |
| 6 |
Cardiovascular magnetic resonance findings in a case of Danon disease.
61
|
Piotrowska-Kownacka D...Krolicki L
|
19402899 |
2009 |
| 7 |
Danon disease: an unusual presentation of autism.
61
|
Burusnukul P...Boue DR
|
18555174 |
2008 |
| 8 |
Roles of LAMP-1 and LAMP-2 in lysosome biogenesis and autophagy.
61
|
Eskelinen EL
|
16973206 |
2006 |
| 9 |
Autophagic vacuolar myopathy.
61
|
Nishino I
|
17027858 |
2006 |
| 10 |
[Glycogenesis Type II (M. Pompe). Selective failure of the respiratory musculature--a rare first symptom].
61
|
Burghaus L...Haupt WF
|
16228159 |
2006 |
| 11 |
[Diagnosis and differential diagnosis of lysosomal glycogen storage disease].
61
|
Fischer D...Schroder R
|
14551696 |
2003 |
| 12 |
Identification of a novel LAMP2 mutation responsible for X-chromosomal dominant Danon disease.
61
|
Horvath J...Omran H
|
14598234 |
2003 |
| 13 |
Infantile autophagic vacuolar myopathy is distinct from Danon disease.
61
|
Yamamoto A...Nishino I
|
11552028 |
2001 |
| 14 |
Early-onset lysosomal glycogen storage disease with normal acid maltase.
61
|
Dayan RM...Renaud DL
|
11596653 |
2001 |
| 15 |
Disease model: LAMP-2 enlightens Danon disease.
61
|
Saftig P...von Figura K
|
11427988 |
2001 |
| 16 |
Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).
61
|
Nishino I...Hirano M
|
10972294 |
2000 |
| 17 |
[Lysosomal glycogen storage disease with normal acid maltase (Danon) without apparent cardiomyopathy and mental retardation].
61
|
Kawamura H...Tadokoro M
|
10885338 |
2000 |
| 18 |
[Lysosomal glycogen storage disease without acid maltase deficiency(Danon disease)].
61
|
Ohno K
|
11032005 |
2000 |
| 19 |
Caveolin-3 and sarcoglycans in the vacuolar myopathies and centronuclear myopathy.
61
|
Inose M...Osame M
|
10417791 |
1999 |
| 20 |
[Hepatic involvement in a case of lysosomal glycogen storage disease with normal acid maltase].
61
|
Matsumoto S...Kira J
|
10548908 |
1999 |
| 21 |
Lysosomal glycogen storage disease with normal acid maltase with early fatal outcome.
61
|
Morisawa Y...Nonaka I
|
9849802 |
1998 |
| 22 |
Recombinant human acid alpha-glucosidase corrects acid alpha-glucosidase-deficient human fibroblasts, quail fibroblasts, and quail myoblasts.
61
|
Yang HW...Van Hove JL
|
9505277 |
1998 |
| 23 |
[Lysosomal glycogen storage disease without acid maltase deficiency (Danon's disease)].
61
|
Usuki F
|
9645081 |
1998 |
| 24 |
Nosology of lysosomal glycogen storage diseases without in vitro acid maltase deficiency. Delineation of a neonatal form.
61
|
Verloes A...Van Hoof F
|
9382133 |
1997 |
| 25 |
Case report: lysosomal glycogen storage disease with normal acid maltase: an unusual form of hypertrophic cardiomyopathy with rapidly progressive heart failure.
61
|
Tse HF...Ma L
|
8853067 |
1996 |
| 26 |
[Lysosomal glycogen storage disease without acid maltase deficiency].
61
|
Usuki F...Osame M
|
8577057 |
1995 |
| 27 |
[A 21-year-old man with distal dominant progressive muscle atrophy].
61
|
Hattori Y...Mizuno Y
|
7786629 |
1995 |
| 28 |
Sarcolemmal indentation in cardiomyopathy with mental retardation and vacuolar myopathy.
61
|
Murakami N...Nonaka I
|
7539316 |
1995 |
| 29 |
Morphologic findings in biopsied skeletal muscle and cultured fibroblasts from a female patient with Danon's disease (lysosomal glycogen storage disease without acid maltase deficiency).
61
|
Usuki F...Osame M
|
7699392 |
1994 |
| 30 |
Familial cardiomyopathy, mental retardation and myopathy associated with desmin-type intermediate filaments.
61
|
Muntoni F...Porcu M
|
7919971 |
1994 |
| 31 |
[A patient with lysosomal glycogen storage disease with normal acid maltase].
61
|
Itoh M...Nonaka I
|
8398237 |
1993 |
| 32 |
Cardiomyopathy, mental retardation, and autophagic vacuolar myopathy. Abnormal MRI findings in the head.
61
|
Kashio N...Murata F
|
1795162 |
1991 |
| 33 |
Glycogen storage disease with normal acid maltase: skeletal and cardiac muscles.
61
|
Tachi N...Sugie H
|
2496694 |
1989 |
| 34 |
Lysosomal glycogen storage disease without deficiency of acid alpha-glucosidase.
61
|
Ullrich K...von Figura K
|
2500669 |
1989 |
| 35 |
Dominantly inherited cardioskeletal myopathy with lysosomal glycogen storage and normal acid maltase levels.
61
|
Byrne E...Pollard A
|
3087571 |
1986 |
| 36 |
Lysosomal glycogen storage disease without acid maltase deficiency.
61
|
Riggs JE...DiMauro S
|
6408499 |
1983 |
| 37 |
Lysosomal glycogen storage disease with normal acid maltase.
61
|
Danon MJ...Schliselfeld LH
|
6450334 |
1981 |
Inborn errors of metabolism 
