Global Variome shared LOVD
ARG1 (arginase, liver)
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All individuals with variants in gene ARG1
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
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.
How to query this table
All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.
Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
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'
To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.
132 entries on 2 pages. Showing entries 1 - 100.
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Legend
How to query
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Individual ID
ID_report
Reference
Remarks
Gender
Consanguinity
Country
Population
Age at death
VIP
Data_av
Treatment
Disease
Phenotype details
Variants
Panel size
Owner
00108469
-
PubMed: Uchino 1995
3 related patients
-
-
Puerto Rico
-
-
0
-
-
argininemia
response dietary therapy good
2
3
Johan den Dunnen
00108470
-
-
-
-
-
-
-
-
0
-
-
?
-
1
1
Johan den Dunnen
00108471
-
PubMed: Uchino 1995
-
-
-
Canada
French
-
0
-
-
argininemia
response dietary therapy slow
2
1
Johan den Dunnen
00108472
-
PubMed: Uchino 1995
-
-
yes
Canada
French
-
0
-
-
argininemia
response dietary therapy good
1
1
Johan den Dunnen
00108473
-
PubMed: Cardoso 1999
unrelated patients
-
-
Portugal
-
-
0
-
-
argininemia
-
1
1
Johan den Dunnen
00108474
-
PubMed: Cardoso 1999
unrelated patients
-
-
Portugal
-
-
0
-
-
argininemia
-
1
1
Johan den Dunnen
00108475
-
PubMed: Cardoso 1999
unrelated patients
-
-
Portugal
-
-
0
-
-
argininemia
-
1
1
Johan den Dunnen
00108476
-
PubMed: Cardoso 1999
unrelated patients
-
-
Portugal
-
-
0
-
-
argininemia
-
1
1
Johan den Dunnen
00108477
-
-
-
-
-
United States
-
-
0
-
-
?
-
1
1
Johan den Dunnen
00108478
patient
PubMed: Haraguchi 1990
2-generation family, 1 affected, unaffected heterozygous carrier parents
F
-
Japan
-
-
0
-
-
argininemia
mental retardation, microcephaly, spastic tetraplegia, intermittent convulsions
2
1
Johan den Dunnen
00108479
-
-
-
-
-
United States
-
-
0
-
-
?
-
1
5
Johan den Dunnen
00108480
-
-
-
-
-
United States
-
-
0
-
-
?
-
1
5
Johan den Dunnen
00108481
-
PubMed: Uchino 1992
-
-
-
Japan
-
-
0
-
-
argininemia
psychomotor retardation and spastic tetraplegia
2
1
Johan den Dunnen
00108482
-
PubMed: Uchino 1995
-
-
yes
Pakistan
-
-
0
-
-
argininemia
response dietary therapy good
1
1
Johan den Dunnen
00108483
-
-
-
-
-
United States
-
-
0
-
-
?
-
1
1
Johan den Dunnen
00108484
-
PubMed: Uchino 1992
-
-
-
Japan
-
-
0
-
-
argininemia
psychomotor retardation and spastic tetraplegia
1
1
Johan den Dunnen
00108485
patient
PubMed: Uchino 1992
-
-
-
Japan
-
-
0
-
-
argininemia
-
1
1
Johan den Dunnen
00108486
patient
PubMed: Grody 1992
-
-
-
(United States)
-
-
0
-
-
argininemia
-
1
1
Johan den Dunnen
00108487
patient
PubMed: Grody 1992
-
-
-
(United States)
-
-
0
-
-
argininemia
-
1
1
Johan den Dunnen
00248295
Fam13
PubMed: Häberle and Koch 2004
prenatal diagnosis, fetus not affected
-
-
Turkey
-
-
0
-
-
AIS
see paper; …
2
1
Johan den Dunnen
00404547
PatMO
PubMed: Vockley 1994
2-generation family, 1 affected, unaffected heterozygous carrier parents
-
-
United States
-
-
0
-
-
argininemia
-
1
1
Johan den Dunnen
00404548
PatBR
PubMed: Vockley 1994
2-generation family, 1 affected, unaffected heterozygous carrier parents
-
-
United States
-
-
0
-
-
argininemia
-
1
1
Johan den Dunnen
00404566
PatMU/RH
PubMed: Vockley 1994
family, 2 affected sibs
-
-
United States
-
-
0
-
-
argininemia
-
1
2
Johan den Dunnen
00404567
PatDC
PubMed: Vockley 1994
individual from incestuous union
-
yes
Mexico
-
-
0
-
-
argininemia
-
1
1
Johan den Dunnen
00404568
-
PubMed: Vockley 1994
-
-
-
United States
-
-
0
-
-
Healthy/Control
-
1
3
Johan den Dunnen
00404569
PatTD
PubMed: Klein 1991
-
-
-
United States
-
-
0
-
-
argininemia
-
1
1
Johan den Dunnen
00404570
family
PubMed: Vockley 1996
3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives
M
no
United States
-
-
0
-
-
argininemia
-
1
1
Johan den Dunnen
00404571
patient
PubMed: Vockley 1996
-
-
-
United States
-
-
0
-
-
argininemia
-
1
1
Johan den Dunnen
00404573
-
PubMed: Dumont 2007
association study
-
-
France
-
-
0
-
-
?
-
1
1
Johan den Dunnen
00404574
patient
PubMed: Edwards 2009
2-generation family, 1 affected, unaffected heterozygous carrier parents
M
-
United States
Hispanic
-
0
-
-
argininemia
see paper; ...
2
1
Johan den Dunnen
00404575
family
PubMed: Hertecant 2009
family, 3 affected children, unaffected heterozygous carrier parents
-
-
United Arab Emirates
Pakistan
-
0
-
-
argininemia
-
1
3
Johan den Dunnen
00404576
patient
PubMed: Lee 2011
2-generation family, 1 affected, unaffected heterozygous carrier parents
M
no
Korea
-
-
0
-
-
argininemia
see paper; ..., argininemia, progressive spastic diplegia
2
1
Johan den Dunnen
00404577
Pat8
PubMed: Jain-Ghai 2011
2-generation family, 1 affected, unaffected heterozygous carrier first cousin parents
M
yes
Iraq
-
-
0
-
-
argininemia
see paper; ..., 6w-lethargy, poor feeding, severe encephalopathy caused by hyperammonemia; cerebral edema, seizures, spasticity, mild developmental delay
1
1
Johan den Dunnen
00404578
FamPat2
PubMed: Jain-Ghai 2011
2-generation family, 3 affected sibs, unaffected parents
F
-
Canada
-
-
0
-
-
argininemia
see paper; ..., learning difficulties, spastic diplegia, controlled seizures,mild recurrent hyperammonemic episodes
1
3
Johan den Dunnen
00404579
FamPat3
PubMed: Jain-Ghai 2011
sister
F
-
Canada
-
-
0
-
-
argininemia
see paper; ..., learning difficulties, spastic diplegia, seizures, recurrent hyperammonemic episodes
1
1
Johan den Dunnen
00404580
FamPat4
PubMed: Jain-Ghai 2011
sister
F
-
Canada
-
-
0
-
-
argininemia
see paper; ..., developmental delay, spastic diplegia, seizures, recurrent hyperammonemic episodes
1
1
Johan den Dunnen
00404581
Pat5
PubMed: Jain-Ghai 2011
-
F
-
Canada
-
-
0
-
-
argininemia
see paper; ..., severe developmental delay, spastic diplegia, no seizures, no hyperammonemic episodes
2
1
Johan den Dunnen
00404582
Pat6
PubMed: Jain-Ghai 2011
-
F
-
Canada
-
-
0
-
-
argininemia
see paper; ..., learning difficulties, spastic diplegia, no seizures, recurrent hyperammonemic episodes
1
1
Johan den Dunnen
00404583
Pat7
PubMed: Jain-Ghai 2011
-
F
-
Canada
-
-
0
-
-
argininemia
see paper; ..., learning difficulties, spastic diplegia, seizures, two hyperammonemic episodes
2
1
Johan den Dunnen
00404584
patient;Pat5
PubMed: Scholl-Burgi 2008
,
PubMed: Huemer 2016
-
M
-
Austria
-
-
0
-
-
argininemia
see paper; ...
2
1
Johan den Dunnen
00404585
patient
PubMed: Schiff 2009
-
F
-
France
-
-
0
-
-
argininemia
see paper; ...
1
1
Johan den Dunnen
00404586
patient
PubMed: Segawa 2011
-
F
no
Japan
-
-
0
-
-
argininemia
see paper; ...
2
1
Johan den Dunnen
00404587
family
PubMed: Nakajima 2021
2-generation family, 2 affected, sisters unaffected heterozygous carrier parents
F
-
Japan
-
-
0
-
-
stature, short
see paper; ..., short stature
2
2
Johan den Dunnen
00404588
patient
PubMed: Cui 2020
,
PubMed: Cui 2021
-
M
-
China
-
-
0
-
-
argininemia
see paper; ..., spastic paraplegia, weakness bilateral lower limbs, tip-toeing gait
2
1
Johan den Dunnen
00404589
patient
PubMed: Bakirtzis 2021
-
M
-
Greece
-
-
0
-
-
argininemia
see paper; ..., spastic gait, intellectual disability, seizures
1
1
Johan den Dunnen
00404590
Pat1
PubMed: Dorum 2021
-
M
-
Turkey
-
-
0
-
-
argininemia
-
1
1
Johan den Dunnen
00404591
Pat2
PubMed: Dorum 2021
-
F
-
Turkey
-
-
0
-
-
argininemia
-
1
1
Johan den Dunnen
00404592
Pat3
PubMed: Dorum 2021
-
M
-
Turkey
-
-
0
-
-
argininemia
-
1
1
Johan den Dunnen
00404593
Pat4
PubMed: Dorum 2021
-
M
-
Turkey
-
-
0
-
-
argininemia
-
1
1
Johan den Dunnen
00404594
Pat5
PubMed: Dorum 2021
-
M
-
Turkey
-
-
0
-
-
argininemia
-
1
1
Johan den Dunnen
00404595
Pat6
PubMed: Dorum 2021
-
M
-
Turkey
-
-
0
-
-
argininemia
-
1
1
Johan den Dunnen
00404596
patient
PubMed: Elsayed 2020
7-generation family, affected (2F, 4M)
F;M
yes
Sudan
-
-
0
-
-
argininemia
-
1
6
Johan den Dunnen
00404599
patient
PubMed: Yucel 2018
-
-
-
Turkey
-
-
0
-
-
argininemia
-
2
1
Johan den Dunnen
00404600
Pat1
PubMed: Diez-Fernandez 2018
-
-
-
-
-
-
0
-
-
argininemia
see paper; ...
1
1
Johan den Dunnen
00404601
Pat9
PubMed: Diez-Fernandez 2018
-
-
-
Turkey
Kurdish
-
0
-
-
argininemia
see paper; ...
1
1
Johan den Dunnen
00404602
Pat11c
PubMed: Diez-Fernandez 2018
-
-
-
Guatemala
-
-
0
-
-
argininemia
see paper; ...
1
1
Johan den Dunnen
00404603
Pat11d
PubMed: Diez-Fernandez 2018
-
-
-
India
-
-
0
-
-
argininemia
see paper; ...
2
1
Johan den Dunnen
00404604
Pat15d
PubMed: Diez-Fernandez 2018
-
-
-
Turkey
-
-
0
-
-
argininemia
see paper; ...
1
1
Johan den Dunnen
00404605
Pat20
PubMed: Diez-Fernandez 2018
-
-
-
Turkey
-
-
0
-
-
argininemia
see paper; ...
1
1
Johan den Dunnen
00404606
Pat22
PubMed: Diez-Fernandez 2018
-
-
-
-
Arab
-
0
-
-
argininemia
see paper; ...
1
1
Johan den Dunnen
00404607
Pat25d
PubMed: Diez-Fernandez 2018
-
-
-
Turkey
-
-
0
-
-
argininemia
see paper; ...
1
1
Johan den Dunnen
00404608
Pat25f
PubMed: Diez-Fernandez 2018
-
-
-
Turkey
-
-
0
-
-
argininemia
see paper; ...
2
1
Johan den Dunnen
00404609
Pat25g
PubMed: Diez-Fernandez 2018
-
-
-
Turkey
-
-
0
-
-
argininemia
see paper; ...
2
1
Johan den Dunnen
00404610
Pat25p
PubMed: Diez-Fernandez 2018
-
-
-
Turkey
-
-
0
-
-
argininemia
see paper; ...
1
1
Johan den Dunnen
00404611
Pat26
PubMed: Diez-Fernandez 2018
-
-
-
Guatemala
-
-
0
-
-
argininemia
see paper; ...
2
1
Johan den Dunnen
00404612
Pat2-2e
PubMed: Diez-Fernandez 2018
-
-
-
Turkey
-
-
0
-
-
argininemia
see paper; ...
1
1
Johan den Dunnen
00404613
Pat2-2f
PubMed: Diez-Fernandez 2018
-
-
-
Turkey
-
-
0
-
-
argininemia
see paper; ...
1
1
Johan den Dunnen
00404614
Pat2-6b
PubMed: Diez-Fernandez 2018
-
-
-
France
-
-
0
-
-
argininemia
see paper; ...
1
1
Johan den Dunnen
00404615
Pat2-7
PubMed: Diez-Fernandez 2018
-
-
-
India
-
-
0
-
-
argininemia
see paper; ...
1
1
Johan den Dunnen
00404616
Pat2-9a/b/c
PubMed: Diez-Fernandez 2018
family, 3 affected sibs
-
-
Turkey
-
-
0
-
-
argininemia
see paper; ...
1
3
Johan den Dunnen
00404617
Pat2-12c
PubMed: Diez-Fernandez 2018
-
-
-
Guatemala
-
-
0
-
-
argininemia
see paper; ...
3
1
Johan den Dunnen
00404618
Pat2-12d
PubMed: Diez-Fernandez 2018
-
-
-
Guatemala
-
-
0
-
-
argininemia
see paper; ...
1
1
Johan den Dunnen
00404619
Pat2-17
PubMed: Diez-Fernandez 2018
-
-
-
India
-
-
0
-
-
argininemia
see paper; ...
1
1
Johan den Dunnen
00404620
Pat2-20a
PubMed: Diez-Fernandez 2018
-
-
-
India
-
-
0
-
-
argininemia
see paper; ...
1
1
Johan den Dunnen
00404621
Pat2-18b
PubMed: Diez-Fernandez 2018
-
-
-
Turkey
-
-
0
-
-
argininemia
see paper; ...
1
1
Johan den Dunnen
00404622
Pat2-23
PubMed: Diez-Fernandez 2018
-
-
-
India
-
-
0
-
-
argininemia
see paper; ...
1
1
Johan den Dunnen
00404623
Pat2-27
PubMed: Diez-Fernandez 2018
-
-
-
Afghanistan
-
-
0
-
-
argininemia
see paper; ...
1
1
Johan den Dunnen
00404624
Pat2-32a
PubMed: Diez-Fernandez 2018
-
-
-
Algeria
-
-
0
-
-
argininemia
see paper; ...
1
1
Johan den Dunnen
00404625
Pat2-32b
PubMed: Diez-Fernandez 2018
-
-
-
Algeria
-
-
0
-
-
argininemia
see paper; ...
1
1
Johan den Dunnen
00404626
Pat2-34a
PubMed: Diez-Fernandez 2018
-
-
-
Turkey
-
-
0
-
-
argininemia
see paper; ...
1
1
Johan den Dunnen
00404627
patient
PubMed: Amayreh 2014
-
-
-
Germany
Arab
-
0
-
-
argininemia
see paper; ...
2
1
Johan den Dunnen
00404628
Pat11
PubMed: Carvalho 2012
-
-
-
Brazil
-
-
0
-
-
argininemia
see paper; ...
2
1
Johan den Dunnen
00404629
Pat1
PubMed: Carvalho 2012
family, affected monozygotic twin brothers
M
-
Brazil
-
-
0
-
-
argininemia
see paper; ...
1
2
Johan den Dunnen
00404630
Pat2
PubMed: Carvalho 2012
twin
M
-
Brazil
-
-
0
-
-
argininemia
see paper; ...
1
1
Johan den Dunnen
00404631
Pat3
PubMed: Carvalho 2012
family, 2 affected sibs
M
yes
Brazil
-
-
0
-
-
argininemia
see paper; ...
1
2
Johan den Dunnen
00404632
Pat4
PubMed: Carvalho 2012
sib
M
-
Brazil
-
-
0
-
-
argininemia
see paper; ...
1
1
Johan den Dunnen
00404633
Pat5
PubMed: Carvalho 2012
-
F
-
Brazil
-
-
0
-
-
argininemia
see paper; ...
1
1
Johan den Dunnen
00404634
Pat6
PubMed: Carvalho 2012
-
F
-
Brazil
-
-
0
-
-
argininemia
see paper; ...
1
1
Johan den Dunnen
00404635
Pat7
PubMed: Carvalho 2012
-
M
-
Brazil
-
-
0
-
-
argininemia
see paper; ...
1
1
Johan den Dunnen
00404636
Pat8
PubMed: Carvalho 2012
-
M
-
Brazil
-
-
0
-
-
argininemia
see paper; ...
2
1
Johan den Dunnen
00404637
Pat9
PubMed: Carvalho 2012
-
M
-
Brazil
-
-
0
-
-
argininemia
see paper; ...
2
1
Johan den Dunnen
00404638
Pat10
PubMed: Carvalho 2012
-
F
-
Brazil
-
-
0
-
-
argininemia
see paper; ...
1
1
Johan den Dunnen
00404639
Pat12
PubMed: Carvalho 2012
-
M
-
Brazil
-
-
0
-
-
argininemia
see paper; ...
1
1
Johan den Dunnen
00404640
Pat13
PubMed: Carvalho 2012
-
F
-
Brazil
-
-
0
-
-
argininemia
see paper; ...
1
1
Johan den Dunnen
00404641
Pat14
PubMed: Carvalho 2012
-
M
-
Brazil
-
-
0
-
-
argininemia
see paper; ...
1
1
Johan den Dunnen
00404642
Pat15
PubMed: Carvalho 2012
-
M
-
Brazil
-
-
0
-
-
argininemia
see paper; ...
1
1
Johan den Dunnen
00404643
Pat16
PubMed: Carvalho 2012
-
M
-
Brazil
-
-
0
-
-
argininemia
see paper; ...
2
1
Johan den Dunnen
00404644
patient
PubMed: Wu 2015
-
-
-
China
-
-
0
-
-
argininemia
see paper; ...
2
1
Johan den Dunnen
00404645
patient
PubMed: Wu 2015
-
-
-
China
-
-
0
-
-
argininemia
see paper; ...
1
1
Johan den Dunnen
00404646
Pat17
PubMed: Huemer 2016
-
-
-
-
-
-
0
-
-
argininemia
see paper; ...
1
1
Johan den Dunnen
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