Disease #02571 (acidemia, propionic, OMIM:606054)

Official abbreviation	-
Name	acidemia, propionic
OMIM ID	606054
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	218
Phenotype entries for this disease	218
Associated with 2 genes	PCCA, PCCB
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

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

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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'

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218 entries on 3 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3		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
00081009	-	PubMed: Trujillano 2017	unaffected parents	-	-	-	-	-	-	-	-	acidemia, propionic	Propionicacidemia (OMIM:606054)	PCCA	PCCA	1	1	Daniel Trujillano
00104054	p1	PubMed: Desviat 2009	-	-	-	-	-	-	-	-	-	acidemia, propionic	-	PCCA	PCCA	2	1	Lourdes R. Desviat
00104055	p2	PubMed: Desviat 2009	-	-	-	-	-	-	-	-	-	acidemia, propionic	-	PCCA	PCCA	2	1	Lourdes R. Desviat
00104056	p3	PubMed: Desviat 2009	-	-	-	-	-	-	-	-	-	acidemia, propionic	-	PCCA	PCCA	2	1	Lourdes R. Desviat
00104057	09385377-MSO	PubMed: Richard 1997, PubMed: Clavero 2004	-	-	-	-	-	>18y	-	-	-	acidemia, propionic	late-onset, relatively mild; favorable response to restriction dietary protein, psychomotor development adequate	PCCA	PCCA	1	1	Johan den Dunnen
00104058	09385377-SAG	PubMed: Richard 1997	-	-	-	-	-	-	-	-	-	acidemia, propionic	late-onset; favorable response to restriction dietary protein, psychomotor development adequate	PCCA	PCCA	1	1	Johan den Dunnen
00104059	09385377-JJLF	PubMed: Richard 1997	-	-	-	-	-	-	-	-	-	acidemia, propionic	severe, neonatal, died soon after diagnosis	PCCA	PCCA	1	1	Johan den Dunnen
00104060	19157943-?	PubMed: Desviat 2009	-	-	-	Australia	-	-	-	-	-	acidemia, propionic	-	PCCA	PCCA	1	1	Johan den Dunnen
00104061	19157943-?	PubMed: Desviat 2009	-	-	-	Germany	-	-	-	-	-	acidemia, propionic	-	PCCA	PCCA	1	1	Johan den Dunnen
00104062	19157943-?	PubMed: Desviat 2009	-	-	-	-	-	-	-	-	-	acidemia, propionic	-	PCCA	PCCA	1	5	Johan den Dunnen
00104063	19157943-?	PubMed: Desviat 2009	-	-	-	-	-	-	-	-	-	acidemia, propionic	-	PCCA	PCCA	1	3	Johan den Dunnen
00104064	19157943-?	PubMed: Desviat 2009	-	-	-	-	Arab	-	-	-	-	acidemia, propionic	-	PCCA	PCCA	1	4	Johan den Dunnen
00104065	19157943-?	PubMed: Desviat 2009	-	-	-	-	Arab	-	-	-	-	acidemia, propionic	-	PCCA	PCCA	1	1	Johan den Dunnen
00104066	19157943-?	PubMed: Desviat 2009	-	-	-	Malaysia	-	-	-	-	-	acidemia, propionic	-	PCCA	PCCA	1	1	Johan den Dunnen
00104067	19157943-?	PubMed: Desviat 2009	-	-	-	Italy	-	-	-	-	-	acidemia, propionic	-	PCCA	PCCA	1	1	Johan den Dunnen
00104068	19157943-?	PubMed: Desviat 2009	-	-	-	Spain	-	-	-	-	-	acidemia, propionic	-	PCCA	PCCA	1	1	Johan den Dunnen
00104069	19157943-?	PubMed: Desviat 2009	-	-	-	Germany	-	-	-	-	-	acidemia, propionic	-	PCCA	PCCA	1	1	Johan den Dunnen
00104070	19157943-?	PubMed: Desviat 2009	-	-	-	United States	-	-	-	-	-	acidemia, propionic	-	PCCA	PCCA	1	1	Johan den Dunnen
00104071	19157943-?	PubMed: Desviat 2009	-	-	-	Lebanon	-	-	-	-	-	acidemia, propionic	-	PCCA	PCCA	1	1	Johan den Dunnen
00104078	p1	-	-	-	-	-	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	2	1	Lourdes R. Desviat
00104079	?	-	-	-	-	-	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	1	1	Lourdes R. Desviat
00104080	p3	-	-	-	-	-	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	1	1	Lourdes R. Desviat
00104081	02249848-539	PubMed: Lamhonwah 1990	-	-	-	-	-	-	-	-	-	acidemia, propionic	cell line no PCC activity	PCCB	PCCB	2	1	Johan den Dunnen
00104082	02249848-453CE	PubMed: Lamhonwah 1990	-	-	-	-	white	-	-	-	-	acidemia, propionic	cell line no PCC activity	PCCB	PCCB	1	1	Johan den Dunnen
00104083	02249848-500LS	PubMed: Lamhonwah 1990	-	-	-	-	white	-	-	-	-	acidemia, propionic	cell line no PCC activity	PCCB	PCCB	1	1	Johan den Dunnen
00104084	02249848-3088JL	PubMed: Lamhonwah 1990	-	-	-	-	white	-	-	-	-	acidemia, propionic	cell line no PCC activity	PCCB	PCCB	1	1	Johan den Dunnen
00104085	02154743-pccBC519	PubMed: Tahara 1990	-	-	-	(United States)	white	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	1	1	Johan den Dunnen
00104086	02154743-pccBC534	PubMed: Tahara 1990	-	-	-	(United States)	white	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	1	1	Johan den Dunnen
00104087	02154743-pccBC1747	PubMed: Tahara 1990	-	-	-	(United States)	white	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	1	1	Johan den Dunnen
00104088	02154743-pccC467	PubMed: Tahara 1990	-	-	-	(United States)	white	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	2	1	Johan den Dunnen
00104089	02154743-pccC543	PubMed: Tahara 1990	-	-	-	(United States)	white	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	1	1	Johan den Dunnen
00104090	02154743-pccC572	PubMed: Tahara 1990	sib of 02154743-pccC576	-	-	(United States)	white	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	2	1	Johan den Dunnen
00104091	02154743-pccC756	PubMed: Tahara 1990	sib of 02154743-pccC572	-	-	(United States)	white	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	2	1	Johan den Dunnen
00104092	02154743-pccC1752	PubMed: Tahara 1990	-	-	-	(United States)	white	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	2	1	Johan den Dunnen
00104093	08411997-J113	PubMed: Tahara 1993	-	-	-	Japan	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	2	2	Johan den Dunnen
00104094	08411997-J146	PubMed: Tahara 1993	sib of 08411997-J171	-	-	Japan	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	2	1	Johan den Dunnen
00104095	08411997-J171	PubMed: Tahara 1993	sib of 08411997-J146	-	-	Japan	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	2	1	Johan den Dunnen
00104096	08225321-338	PubMed: Ohura 1993, PubMed: Ohura 1993	-	-	-	Japan	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	2	1	Johan den Dunnen
00104097	08295402-83	PubMed: Ohura 1993	-	-	-	Japan	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	2	1	Johan den Dunnen
00104098	08295402-212	PubMed: Ohura 1993	-	-	-	Japan	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	2	1	Johan den Dunnen
00104099	08295402-276	PubMed: Ohura 1993	-	-	-	Japan	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	2	1	Johan den Dunnen
00104100	08295402-187	PubMed: Ohura 1993	-	-	-	Japan	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	2	1	Johan den Dunnen
00104101	08411997-2267	PubMed: Tahara 1993	-	-	-	-	white;Hispanic	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	2	1	Johan den Dunnen
00104102	08411997-3007	PubMed: Tahara 1993	-	-	-	-	white	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	1	1	Johan den Dunnen
00104103	07789958-Pat187	PubMed: Ohura 1995	-	-	-	Japan	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	2	1	Johan den Dunnen
00104104	08023851-535	PubMed: Gravel 1994	-	-	-	United States	Amish	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	2	1	Johan den Dunnen
00104105	08023851-445	PubMed: Gravel 1994	-	-	-	United States	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	2	1	Johan den Dunnen
00104106	08023851-500	PubMed: Gravel 1994	-	-	-	United States	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	2	1	Johan den Dunnen
00104107	08023851-3138	PubMed: Gravel 1994	-	-	-	United States	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	2	1	Johan den Dunnen
00104108	08023851-8913	PubMed: Gravel 1994	-	-	-	United States	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	2	1	Johan den Dunnen
00104109	08023851-539	PubMed: Gravel 1994	-	-	-	United States	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	2	1	Johan den Dunnen
00104110	09452096-APJ	PubMed: Hoenicka 1998	-	-	-	Spain	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	2	1	Johan den Dunnen
00104111	09452096-SSL	PubMed: Hoenicka 1998	-	-	-	Spain	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	2	1	Johan den Dunnen
00104112	09452096-pats	PubMed: Hoenicka 1998	-	-	-	Spain	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	1	1	Johan den Dunnen
00104113	09683601-ALT	PubMed: Rodriguez-Pombo 1998	-	-	-	Spain	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	2	1	Johan den Dunnen
00104114	09683601-CBV	PubMed: Rodriguez-Pombo 1998	-	-	-	Spain	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	2	1	Johan den Dunnen
00104115	09683601-MRA	PubMed: Rodriguez-Pombo 1998	-	-	-	Spain	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	2	1	Johan den Dunnen
00104116	09683601-LMC	PubMed: Rodriguez-Pombo 1998	-	-	-	Chile	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	2	1	Johan den Dunnen
00104117	09683601-DTV	PubMed: Rodriguez-Pombo 1998	-	-	-	Chile	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	2	1	Johan den Dunnen
00104118	09683601-SSL	PubMed: Rodriguez-Pombo 1998	-	-	-	Spain	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	2	1	Johan den Dunnen
00104119	09683601-APJ	PubMed: Rodriguez-Pombo 1998	-	-	-	Spain	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	2	1	Johan den Dunnen
00104120	09683601-PRG	PubMed: Rodriguez-Pombo 1998	-	-	-	Spain	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	2	1	Johan den Dunnen
00104121	09683601-NGA	PubMed: Rodriguez-Pombo 1998	-	-	-	Chile	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	2	1	Johan den Dunnen
00104122	09683601-SVL	PubMed: Rodriguez-Pombo 1998	-	-	-	Spain	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	2	1	Johan den Dunnen
00104123	09683601-CTG	PubMed: Muro 2001, PubMed: Perez 2003	-	-	-	Spain	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	4	1	Johan den Dunnen
00104124	09683601-LGA	PubMed: Rodriguez-Pombo 1998	-	-	-	Spain	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	2	1	Johan den Dunnen
00104125	09683601-JGG	PubMed: Rodriguez-Pombo 1998	-	-	-	Spain	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	2	1	Johan den Dunnen
00104126	09683601-FM	PubMed: Rodriguez-Pombo 1998	-	-	-	Chile	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	2	1	Johan den Dunnen
00104127	09683601-VMP	PubMed: Rodriguez-Pombo 1998	-	-	-	Spain	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	3	1	Johan den Dunnen
00104128	09683601-AJA	PubMed: Rodriguez-Pombo 1998	-	-	-	Spain	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	2	1	Johan den Dunnen
00104129	09683601-GA	PubMed: Rodriguez-Pombo 1998	-	-	-	Spain	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	2	1	Johan den Dunnen
00104130	09683601-EAC	PubMed: Rodriguez-Pombo 1998	-	-	-	Spain	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	2	1	Johan den Dunnen
00104131	09683601-PPM	PubMed: Rodriguez-Pombo 1998	-	-	-	Ecuador	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	2	1	Johan den Dunnen
00104132	09683601-PVD	PubMed: Rodriguez-Pombo 1998	-	-	-	Spain	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	2	1	Johan den Dunnen
00104133	09683601-DMS	PubMed: Rodriguez-Pombo 1998	-	-	-	Spain	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	2	1	Johan den Dunnen
00104134	09683601-HMM	PubMed: Rodriguez-Pombo 1998	-	-	-	Chile	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	2	1	Johan den Dunnen
00104135	09683601-PHH	PubMed: Rodriguez-Pombo 1998	-	-	-	Spain	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	2	1	Johan den Dunnen
00104136	09683601-CJF	PubMed: Rodriguez-Pombo 1998	-	-	-	Spain	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	3	1	Johan den Dunnen
00104137	09683601-MBG	PubMed: Rodriguez-Pombo 1998	-	-	-	Spain	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	2	1	Johan den Dunnen
00104138	09683601-OVE	PubMed: Rodriguez-Pombo 1998	-	-	-	Spain	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	2	1	Johan den Dunnen
00104139	09683601-HM	PubMed: Rodriguez-Pombo 1998	-	-	-	Brazil	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	2	1	Johan den Dunnen
00104140	09683601-LVA	PubMed: Rodriguez-Pombo 1998	-	-	-	Spain	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	1	1	Johan den Dunnen
00104141	09683601-MV	PubMed: Rodriguez-Pombo 1998	-	-	-	Chile	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	2	1	Johan den Dunnen
00104142	10820128-Pat6	PubMed: Ravn 2000	-	-	-	Greenland	Inuit	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	2	1	Johan den Dunnen
00104144	11749052-ASF	PubMed: Muro 2001	-	-	-	Spain	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	3	1	Johan den Dunnen
00104145	10447268-AML	PubMed: Muro 1999	-	-	-	Spain	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	3	1	Johan den Dunnen
00104146	10447268-JRC	PubMed: Muro 1999	-	-	-	Spain	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	2	1	Johan den Dunnen
00104147	10447268-EE	PubMed: Muro 1999	family, 4 affecteds	-	-	Austria	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	2	4	Johan den Dunnen
00104148	12189489-Pat1	PubMed: Yorifuji 2002	-	-	-	Japan	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	2	1	Johan den Dunnen
00104149	12189489-Pat2	PubMed: Yorifuji 2002	-	-	-	Japan	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	2	1	Johan den Dunnen
00104150	12189489-Pat3	PubMed: Yorifuji 2002	-	-	-	Japan	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	2	1	Johan den Dunnen
00104151	12189489-Pat4	PubMed: Yorifuji 2002	-	-	-	Japan	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	2	1	Johan den Dunnen
00104152	12189489-Pat5	PubMed: Yorifuji 2002	-	-	-	Japan	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	2	1	Johan den Dunnen
00104153	12189489-Pat6	PubMed: Yorifuji 2002	-	-	-	Japan	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	2	1	Johan den Dunnen
00104154	12189489-Pat7	PubMed: Yorifuji 2002	-	-	-	Japan	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	1	1	Johan den Dunnen
00104155	12189489-Pat8	PubMed: Yorifuji 2002	-	-	-	Japan	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	2	1	Johan den Dunnen
00104156	12189489-Pat9	PubMed: Yorifuji 2002	-	-	-	Japan	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	2	1	Johan den Dunnen
00104157	12189489-Pat10	PubMed: Yorifuji 2002	-	-	-	Japan	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	2	1	Johan den Dunnen
00104158	12409268-Pat1	PubMed: Kim 2002	-	-	-	Korea	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	2	1	Johan den Dunnen
00104159	12409268-Pat2	PubMed: Kim 2002	-	-	-	Korea	-	-	-	-	-	acidemia, propionic	-	PCCB	PCCB	2	1	Johan den Dunnen

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Global Variome shared LOVD