All individuals with variants in gene DBT

41 entries on 1 page. Showing entries 1 - 41.
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00289460 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 85 Mohammed Faruq
00289461 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 21 Mohammed Faruq
00304130 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00451439 3bINP-027 PubMed: Vela-Amieva 2024 Familial case (sister affected: died at 05m) F no Mexico Mexican - - - - MSUD2 Hypoglycemia, short stature, hip dysplasia 1 1 Miriam Erandi Reyna-Fabián
00451636 3bINP-076 PubMed: Vela-Amieva 2024 - F no Mexico Mexican - - - - MSUD2 Severe intellectual disability, Seizures, Opisthotonus 1 1 Miriam Erandi Reyna-Fabián
00451637 3bINP-069 PubMed: Vela-Amieva 2024 Likely consanguinity. Co-occurrence of two different monogenic diseases. M no Mexico Mexican - - - - MSUD1A Global developmental delay, Spasticity, Amblyopia 1 1 Miriam Erandi Reyna-Fabián
00451645 3bINP-081 PubMed: Vela-Amieva 2024 - M no Mexico Mexican - - - - MSUD2 Global developmental delay, Spasticity 2 1 Miriam Erandi Reyna-Fabián
00451652 3bINP-092 PubMed: Vela-Amieva 2024 Familial case (sister affected: died at 01m) F no Mexico Mexican - - - - MSUD2 Severe intellectual disability, Seizures, Spasticity, Dermatosis 1 1 Miriam Erandi Reyna-Fabián
00451653 3bINP-094 PubMed: Vela-Amieva 2024 Family case (affected maternal aunt and uncle) M yes Mexico Mexican - - - - MSUD2 Severe intellectual disability, Central hypothyroidism, Bilateral cryptorchidism 1 1 Miriam Erandi Reyna-Fabián
00451662 3bINP-104 PubMed: Vela-Amieva 2024 - F no Mexico Mexican - - - - MSUD1A Global developmental delay 1 1 Miriam Erandi Reyna-Fabián
00452260 - PubMed: Wang 2019 screening 401,660 newborns for inborn errors of metabolism - - China - - - - - ? - 1 2 Johan den Dunnen
00466213 Pat3 PubMed: Soriano-Sexto 2022, Journal: Soriano-Sexto 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Spain - - - - - ? see paper; ..., maple syrup urine disease 2 1 Johan den Dunnen
00466219 KM03 PubMed: Tsurata 1998, Journal: Tsurata 1998 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Japan - - - - - MSUD see paper; ... 1 1 Johan den Dunnen
00466220 KM24 PubMed: Tsurata 1998, Journal: Tsurata 1998 2-generation family, 1 affected, unaffected heterozygous carrier first cousin parents M likely Japan - - - - - MSUD see paper; ... 1 1 Johan den Dunnen
00466221 KM05 PubMed: Tsurata 1998, Journal: Tsurata 1998 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Japan - - - - - MSUD see paper; ..., intermittent episodes of ketoacidosis 2 1 Johan den Dunnen
00466226 Pat5 PubMed: Dursun 2002, {DOI:Dursun 2002:10.1023/a:1015668425004} 2-generation family, 1 affected, unaffected parents - - Turkey - - - - - MSUD see paper; ... 1 1 Johan den Dunnen
00466253 Pat23 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - MSUD severe; classic MSUD who was admitted to NICU on the seventh day for 2.5 months and was ventilated. At the age of 4 months, she was admitted to PICU, put on ventilator and was diagnosed as a patient of MSUD. She died at age of 6 months. 1 1 Johan den Dunnen
00466254 Pat24 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - MSUD severe; classic MSUD, she was normal till the age of 3 days then she developed poor suckling, excessive crying, irritability, convulsions. At the age of 9 months, Ms/Ms was diagnostic for MSUD. She had frequent hospital readmissions. 1 1 Johan den Dunnen
00466255 Pat25 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - MSUD severe; classic MSUD with deterioration to coma and a lengthy admission to NICU and ventilation. He was diagnosed as MSUD at 45 days. He had multiple hospital readmissions for metabolic crisis. 1 1 Johan den Dunnen
00466256 Pat26 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - MSUD moderate; asymptomatic She was diagnosed on second day by NBS program due to previous sib diagnosed with MSUD (P25) with no history of hospital admissions. At the age of 3 year, she was admitted to hospital for 1 week due to metabolic decompensation. 1 1 Johan den Dunnen
00466257 Pat27 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - MSUD severe; classic MSUD with deterioration and NICU admission and ventilation. He was diagnosed at the age of 2 month and started treatment. No available follow up after the age of 4 months. 1 1 Johan den Dunnen
00466258 Pat28 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - MSUD moderate; classic MSUD with deterioration to coma and admission to NICU with ventilation. He had convulsion sine two weeks of age. 1 1 Johan den Dunnen
00466259 Pat29 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - MSUD classic MSUD with rapid deterioration to coma and lengthy NICU admission with ventilation for 60 days. No history of hospital readmission for metabolic decompensation from diagnosis till now. 1 1 Johan den Dunnen
00466260 Pat30 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - MSUD classic MSUD with deterioration to coma and admission to NICU with ventilation. No history of hospital readmission for metabolic decompensation from diagnosis till now. 1 1 Johan den Dunnen
00466261 Pat31 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - MSUD classic MSUD with rapid deterioration to coma and NICU admission with ventilation. He had no hospital readmission from diagnosis till now. 1 1 Johan den Dunnen
00466262 Pat32 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - MSUD mild; asymptomatic classic MSUD that was diagnosed since birth by NBS program due to family history of previous sib death. She had no history of hospital readmission with metabolic crisis. Previous sib deaths due to late diagnosis of MSUD were at the age of 1.5 and 2 months, respectively. 1 1 Johan den Dunnen
00466263 Pat33 PubMed: Khalifa 2020, Journal: Khalifa 2020 - - - Egypt - - - - - MSUD severe; classic MSUD with rapid deterioration to coma and NICU admission with ventilation. She had three hospital readmissions with metabolic crisis from diagnosis till now. 1 1 Johan den Dunnen
00466268 Pat5 Journal: Jaradat 2016 2-generation family, affected (sister/brother), unaffected heterozygous carrier parents F yes Jordan - - - - - MSUD moderate developmental delay, hypotonia, mild brain atrophy 1 2 Johan den Dunnen
00466269 Pat6 Journal: Jaradat 2016 2-generation family, 2 affected, unaffected heterozygous carrier parents F yes Jordan - - - - - MSUD poor feeding and convulsions at presentation, later follow up moderate developmental delay; MSUD deceased sib 1 2 Johan den Dunnen
00466274 - Journal: Jaradat 2016 control - - Jordan - - - - - Healthy/Control - 1 1 Johan den Dunnen
00466275 - Journal: Jaradat 2016 control - - Jordan - - - - - Healthy/Control - 1 1 Johan den Dunnen
00466276 - Journal: Jaradat 2016 control - - Jordan - - - - - Healthy/Control - 1 1 Johan den Dunnen
00466288 Pat3 PubMed: Jaafar 2013, Journal: Jaafar 2013 2-generation family, 1 affected, unaffected heterozygous first-cousin carrier parents M yes Tunisia - - - - - MSUD - 1 1 Johan den Dunnen
00466293 msud004 PubMed: Henneke 2003, Journal: Henneke 2003 - - - Spain - - - - - MSUD classical MSUD 2 1 Johan den Dunnen
00466294 msud005 PubMed: Henneke 2003, Journal: Henneke 2003 - - - Turkey - - - - - MSUD classical MSUD 1 1 Johan den Dunnen
00466296 msud007 PubMed: Henneke 2003, Journal: Henneke 2003 - - - Spain - - - - - MSUD classical MSUD 1 1 Johan den Dunnen
00466300 msud011 PubMed: Henneke 2003, Journal: Henneke 2003 - - - Germany - - - - - MSUD classical MSUD 1 1 Johan den Dunnen
00466306 msud019 PubMed: Henneke 2003, Journal: Henneke 2003 - - - France - - - - - MSUD variant MSUD 2 1 Johan den Dunnen
00466320 Pat30 PubMed: Flaschker 2007, Journal: Flaschker 2007 - - - Germany - - - - - MSUD classical MSUD 2 1 Johan den Dunnen
00466321 Pat9 PubMed: Flaschker 2007, Journal: Flaschker 2007 - - - Germany - - - - - MSUD mild MSUD 1 1 Johan den Dunnen
00466326 control PubMed: Flaschker 2007, Journal: Flaschker 2007 - - - Germany - - - - - Healthy/Control - 1 1 Johan den Dunnen
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