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Journal of Central Nervous System Disease, ISSN 1179-5735, 10/2017, Volume 9, p. 1179573517737521
Solute carrier family 19 (thiamine transporter), member 3 (SCL19A3) gene defect produces an autosomal recessive neurodegenerative disorder associated with... 
Phenotypes | Nuclear magnetic resonance--NMR | Dehydrogenases | Neurodegenerative diseases | Authorship | Thiamine transporter | Case reports | Biotin | Patients | Defects | Hereditary diseases | Genotype & phenotype | Convulsions & seizures | Brain research | Genetic counseling | Vitamin B | Spectrum analysis | Peer review | Mutation | Leigh-like syndrome | Thiamine
Journal Article
Journal of Central Nervous System Disease, 10/2017, Volume 9
Solute carrier family 19 (thiamine transporter), member 3 ( SCL19A3 ) gene defect produces an autosomal recessive neurodegenerative disorder associated with... 
Journal Article
Nature Genetics, ISSN 1061-4036, 04/2008, Volume 40, Issue 4, pp. 443 - 448
Journal Article
Neuropediatrics, 04/2018, Volume 49, Issue 2, p. 83
Thiamine metabolism dysfunction syndrome type 2 is also known by other terms including: " gene defect," "biotin-responsive basal ganglia disease" (BBGD), and... 
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 06/2016, Volume 374, Issue 23, pp. 2246 - 2255
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 02/2017, Volume 25, Issue 2, pp. 176 - 182
Journal Article
Pediatric Blood & Cancer, ISSN 1545-5009, 04/2018, Volume 65, Issue 4, pp. e26912 - n/a
Adenosine deaminase‐2 (ADA2) deficiency (DADA2) is associated with early onset polyarteritis nodosa and vasculopathy. Classic presentation includes livedo... 
ADA2 deficiency | autoimmune lymphoproliferative syndrome | anti‐TNF | anti-TNF | STROKE | ONCOLOGY | PEDIATRICS | MUTATIONS | HEMATOLOGY | ADENOSINE-DEAMINASE 2 | Vasculitis | Drugs | Phenotypes | Adenosine | Stroke | Hematology | Splicing | T cell receptors | Adenosine deaminase | Mimicry | Vascular diseases | Lymphocytes | Remission | Index Medicus
Journal Article
Cell Reports, ISSN 2211-1247, 01/2015, Volume 10, Issue 2, pp. 148 - 161
Journal Article
Neuropediatrics, ISSN 0174-304X, 04/2018, Volume 49, Issue 2, pp. 083 - 092
Abstract Thiamine metabolism dysfunction syndrome type 2 is also known by other terms including: “ SCL19A3 gene defect,” “biotin-responsive basal ganglia... 
Review Article | BBGD | biotin-thiamine-responsive basal ganglia disease | BTBGD | SCL19A3 gene defect | biotin-responsive basal ganglia disease | thiamine metabolism dysfunction syndrome 2 | DIFFERENTIAL-DIAGNOSIS | DEFICIENCY | CLINICAL NEUROLOGY | EXOME SEQUENCING REVEALS | SCL19A3 | BASAL GANGLIA DISEASE | BIOTIN | PEDIATRICS | gene defect | THIAMINE TRANSPORT | MUTATIONS
Journal Article
Frontiers in Neurology, ISSN 1664-2295, 2019, Volume 10, p. 411
Background: Severe 5,10-methylenetetrahydrofolate reductase (MTHFR) deficiency is a heterogeneous metabolic disorder inherited in an autosomal recessive... 
White matter disease | MTHFR | Microcephaly | Non-sense mutation | Severe methylenetetrahydrofolate reductase deficiency | microcephaly | METHYLENETETRAHYDROFOLATE REDUCTASE | non-sense mutation | white matter disease | severe methylenetetrahydrofolate reductase deficiency | MICE DEFICIENT | NEUROSCIENCES | CLINICAL NEUROLOGY
Journal Article
The American journal of case reports, ISSN 1941-5923, 05/2019, Volume 20, pp. 643 - 646
BACKGROUND Krabbe disease, or globoid cell leukodystrophy, is an autosomal recessive disease caused by the deficiency of lysosomal galactocerebrosidase. The... 
Journal Article
Neuropsychiatric Disease and Treatment, ISSN 1176-6328, 11/2014, Volume 10, pp. 2135 - 2137
Journal Article
by Monies, Dorota and Abouelhoda, Mohamed and AlSayed, Moeenaldeen and Alhassnan, Zuhair and Alotaibi, Maha and Kayyali, Husam and Al-Owain, Mohammed and Shah, Ayaz and Rahbeeni, Zuhair and Al-Muhaizea, Mohammad A and Alzaidan, Hamad I and Cupler, Edward and Bohlega, Saeed and Faqeih, Eissa and Faden, Maha and Alyounes, Banan and Jaroudi, Dyala and Goljan, Ewa and Elbardisy, Hadeel and Akilan, Asma and Albar, Renad and Aldhalaan, Hesham and Gulab, Shamshad and Chedrawi, Aziza and Al Saud, Bandar K and Kurdi, Wesam and Makhseed, Nawal and Alqasim, Tahani and El Khashab, Heba Y and Al-Mousa, Hamoud and Alhashem, Amal and Kanaan, Imaduddin and Algoufi, Talal and Alsaleem, Khalid and Basha, Talal A and Al-Murshedi, Fathiya and Khan, Sameena and Al-Kindy, Adila and Alnemer, Maha and Al-Hajjar, Sami and Alyamani, Suad and Aldhekri, Hasan and Al-Mehaidib, Ali and Arnaout, Rand and Dabbagh, Omar and Shagrani, Mohammad and Broering, Dieter and Tulbah, Maha and Alqassmi, Amal and Almugbel, Maisoon and AlQuaiz, Mohammed and Alsaman, Abdulaziz and Al-Thihli, Khalid and Sulaiman, Raashda A and Al-Dekhail, Wajeeh and Alsaegh, Abeer and Bashiri, Fahad A and Qari, Alya and Alhomadi, Suzan and Alkuraya, Hisham and Alsebayel, Mohammed and Hamad, Muddathir H and Szonyi, Laszlo and Abaalkhail, Faisal and Al-Mayouf, Sulaiman M and Almojalli, Hamad and Alqadi, Khalid S and Elsiesy, Hussien and Shuaib, Taghreed M and Seidahmed, Mohammed Zain and Abosoudah, Ibraheem and Akleh, Hana and AlGhonaium, Abdulaziz and Alkharfy, Turki M and Al Mutairi, Fuad and Eyaid, Wafa and Alshanbary, Abdullah and Sheikh, Farrukh R and Alsohaibani, Fahad I and Alsonbul, Abdullah and Al Tala, Saeed and Balkhy, Soher and Bassiouni, Randa and Alenizi, Ahmed S and Hussein, Maged H and Hassan, Saeed and Khalil, Mohamed and Tabarki, Brahim and Alshahwan, Saad and Oshi, Amira and Sabr, Yasser and Alsaadoun, Saad and Salih, Mustafa A and Mohamed, Sarar and Sultana, Habiba and Tamim, Abdullah and El-Haj, Moayad and Alshahrani, Saif and Bubshait, Dalal K and Alfadhel, Majid and ...
Human Genetics, ISSN 0340-6717, 8/2017, Volume 136, Issue 8, pp. 921 - 939
Journal Article
FRONTIERS IN GENETICS, ISSN 1664-8021, 11/2018, Volume 9, pp. 447 - 447
Polydactyly, also known as hyperdactyly or hexadactyly is the most common hereditary limb anomaly characterized by extra fingers or toes, with various... 
SPLICE-SITE VARIANT | PPD | limb defects | extra digits/toes | PHENOTYPES | LOCUS | FOOT | digit anomalies | A/B | GENETICS & HEREDITY | ENHANCER ZRS | DUPLICATION | MUTATIONS | DEVELOPING LIMB | polydactyly | PAP | SONIC-HEDGEHOG EXPRESSION | Usage | Genetic aspects | Genetic counseling | Polydactyly
Journal Article