Disease #01822 (GSD2 (storage disease, glycogen, type II (GSD-2, Pompe disease)), OMIM:232300)

Official abbreviation	GSD2
Name	storage disease, glycogen, type II (GSD-2, Pompe disease)
OMIM ID	232300
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	912
Phenotype entries for this disease	851
Associated with 1 gene	GAA
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

Individuals

Legend

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ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication

Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

Remarks: remarks about the individual

Gender: gender individual
All options:

? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male

Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable

Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:

? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)

Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.

Age at death: age at which the individual deceased (when applicable):

35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)

Treatment: treatment of patient

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

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Operator	Column type	Example	Matches
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space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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912 entries on 10 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6	7	8	9	10		Next ›	Last »

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00100967	?	PubMed: Kostera-Pruszczyk 2006	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00100978	?	PubMed: Hoefsloot 1990	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00100995	?	PubMed: Zhong 1991	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	2	1	Arnold Reuser
00100996	?	PubMed: Hermans 1991, OMIM:var0003	2-generation family, 2 affecteds, unaffected heterozygous carrier parents	-	yes	India	-	-	-	-	-	GSD2	severe	GAA	GAA	1	2	Arnold Reuser
00101000	?	PubMed: Tsujino 2000	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101001	?	PubMed: Shieh 1994	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101002	?	PubMed: Hermans 1993	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101003	?	PubMed: Hermans 1993	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101004	?	PubMed: Adams 1997	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101005	?	PubMed: Shieh 1998	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101006	?	PubMed: Laforet 2000	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101007	?	PubMed: Hermans 1993	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	2	1	Arnold Reuser
00101008	09521422-PatC	PubMed: Hermans 1998	-	-	-	Turkey	-	-	-	-	-	GSD2	severe	GAA	GAA	5	1	Arnold Reuser
00101012	?	PubMed: Castro-Gago 1999	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101013	?	PubMed: Laforet 2000	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101014	?	PubMed: Hermans 1993	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101015	?	PubMed: Becker 1998	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101020	?	PubMed: Hermans 1994	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101021	?	PubMed: Kroos 1995	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101022	?	PubMed: Hirschhorn 1999	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101023	?	PubMed: Boerkoel 1995	-	-	-	-	-	-	-	-	-	GSD2	mild	GAA	GAA	1	1	Arnold Reuser
00101024	?	PubMed: Huie 1994b	-	-	-	-	-	-	-	-	-	GSD2	mild	GAA	GAA	1	1	Arnold Reuser
00101025	?	PubMed: Kroos 1995	-	-	-	-	-	-	-	-	-	GSD2	mild	GAA	GAA	1	1	Arnold Reuser
00101026	?	PubMed: Stroppiano 2001	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101027	?	PubMed: Huie 1994b	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101028	?	PubMed: Huie 1994c	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101029	?	PubMed: Huie 1994	-	-	-	-	-	-	-	-	-	GSD2	intermediate	GAA	GAA	1	1	Arnold Reuser
00101030	?	PubMed: Huie 1998	-	-	-	-	-	-	-	-	-	GSD2	intermediate	GAA	GAA	1	1	Arnold Reuser
00101031	?	PubMed: Hermans 1994	-	-	-	-	-	-	-	-	-	GSD2	intermediate	GAA	GAA	1	1	Arnold Reuser
00101032	?	PubMed: Huie 1994c	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101033	?	PubMed: Huie 1998	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101038	?	PubMed: Dagnino 2000	-	-	-	Italy	Sicilian	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101041	?	PubMed: Van der Kraan 1994	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101044	?	PubMed: Hirschhorn 1999	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101047	?	PubMed: Raben 1995	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101049	?	PubMed: Reuser 1995	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101052	?	PubMed: Reuser 1995	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101054	?	PubMed: Reuser 1995	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101055	09521422-PatB	PubMed: Hermans 1998	-	-	-	Turkey	-	-	-	-	-	GSD2	severe	GAA	GAA	2	1	Arnold Reuser
00101057	?	PubMed: Lin 1995	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101058	?	PubMed: Reuser 1995	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101059	09521422-PatA	PubMed: Hermans 1998	-	-	-	Turkey	-	-	-	-	-	GSD2	severe	GAA	GAA	2	1	Arnold Reuser
00101060	09521422-PatD	PubMed: Reuser 1995, PubMed: Hermans 1998	-	-	-	Turkey	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101061	?	PubMed: Raben 1995	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101063	?	PubMed: Ko 1999	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101064	?	PubMed: Shieh 1996	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101065	?	PubMed: Tsujino 2000	-	-	-	-	-	-	-	-	-	GSD2	mild	GAA	GAA	1	1	Arnold Reuser
00101066	?	PubMed: Tsunoda 1996	-	-	-	-	-	-	-	-	-	GSD2	mild	GAA	GAA	1	1	Arnold Reuser
00101067	?	PubMed: Nicolino 1997	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101068	?	PubMed: Laforet 2000	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101069	?	PubMed: Kroos 1997	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101070	?	PubMed: Vorgerd 1998	-	-	-	-	-	-	-	-	-	GSD2	mild	GAA	GAA	1	1	Arnold Reuser
00101071	?	PubMed: Adams 1997	-	-	-	-	-	-	-	-	-	GSD2	mild	GAA	GAA	1	1	Arnold Reuser
00101072	?	PubMed: Hermans 1997	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101073	?	PubMed: Vorgerd 1998	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101074	?	PubMed: Beesley 1998	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101075	?	PubMed: Vorgerd 1998	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101076	?	PubMed: Kroos 1998	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101077	?	PubMed: Beesley 1998	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101078	?	PubMed: Huie 1998	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101079	?	PubMed: Kroos 1998	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101080	?	PubMed: Vorgerd 1998	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101081	?	PubMed: Huie 1998	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101082	?	PubMed: Ko 1999	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101083	?	PubMed: Huie 1998	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101084	?	PubMed: Tsujino 2000	-	-	-	-	-	-	-	-	-	GSD2	intermediate	GAA	GAA	1	1	Arnold Reuser
00101085	?	PubMed: Huie 1998	-	-	-	-	-	-	-	-	-	GSD2	intermediate	GAA	GAA	1	1	Arnold Reuser
00101086	?	PubMed: Laforet 2000	-	-	-	-	-	-	-	-	-	GSD2	intermediate	GAA	GAA	1	1	Arnold Reuser
00101087	?	PubMed: Huie 1998	-	-	-	-	-	-	-	-	-	GSD2	intermediate	GAA	GAA	1	1	Miguel Angel Alcántara-Ortigoza
00101089	?	PubMed: Beesley 1998	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101090	?	PubMed: Beesley 1998	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101091	?	PubMed: Huie 1998	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101092	?	PubMed: Beesley 1998	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101093	?	PubMed: Becker 1998	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101094	?	PubMed: Huie 1999	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101095	?	PubMed: Castro-Gago 1999	-	-	-	-	-	-	-	-	-	GSD2	mild	GAA	GAA	1	1	Arnold Reuser
00101096	?	PubMed: Talsma 2002	-	-	-	-	-	-	-	-	-	GSD2	mild	GAA	GAA	1	1	Arnold Reuser
00101097	?	PubMed: Raben 1999	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101098	?	PubMed: Raben 1999	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101099	?	PubMed: Raben 1999	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101100	?	PubMed: Ko 1999	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101101	?	PubMed: Ko 1999	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101102	?	PubMed: Ko 1999	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101103	?	PubMed: Huie 1999	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101104	?	PubMed: Ko 1999	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101105	?	PubMed: Ko 1999	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101106	?	PubMed: Laforet 2000	-	-	-	-	-	-	-	-	-	GSD2	severe?	GAA	GAA	1	1	Arnold Reuser
00101107	?	PubMed: Laforet 2000	-	-	-	-	-	-	-	-	-	GSD2	intermediate	GAA	GAA	1	1	Arnold Reuser
00101108	?	PubMed: Laforet 2000	-	-	-	-	-	-	-	-	-	GSD2	intermediate?	GAA	GAA	1	1	Arnold Reuser
00101109	?	PubMed: Laforet 2000	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101110	?	PubMed: Laforet 2000	-	-	-	-	-	-	-	-	-	GSD2	severe?	GAA	GAA	1	1	Arnold Reuser
00101111	?	PubMed: Tsujino 2000	-	-	-	-	-	-	-	-	-	GSD2	severe?	GAA	GAA	1	1	Arnold Reuser
00101112	?	PubMed: Pipo 2003	-	-	-	-	-	-	-	-	-	GSD2	severe?	GAA	GAA	1	1	Arnold Reuser
00101113	?	PubMed: Laforet 2000	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101114	?	2001 ASHG	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101115	?	PubMed: Stroppiano 2001	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101116	?	2001 ASHG	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101117	?	2001 ASHG	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101118	?	PubMed: Fernandez-Hojas 2002	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser
00101119	?	PubMed: Fernandez-Hojas 2002	-	-	-	-	-	-	-	-	-	GSD2	severe	GAA	GAA	1	1	Arnold Reuser

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