148 related articles for article (PubMed ID: 32845099)
1. Anesthesia Management for Cesarean Delivery in a Woman With Aromatic L-Amino Acid Decarboxylase Deficiency: A Case Report.
Viviani C; Buelli E; Fierro G; Stiffan S; Lorini FL
A A Pract; 2020 Aug; 14(10):e01275. PubMed ID: 32845099
[TBL] [Abstract][Full Text] [Related]
2. Anesthesia management in a young child with aromatic l-amino acid decarboxylase deficiency.
Vutskits L; Menache C; Manzano S; Haenggeli CA; Habre W
Paediatr Anaesth; 2006 Jan; 16(1):82-4. PubMed ID: 16409536
[TBL] [Abstract][Full Text] [Related]
3. Newborn screening for aromatic l-amino acid decarboxylase deficiency - Strategies, results, and implication for prevalence calculations.
Reischl-Hajiabadi AT; Okun JG; Kohlmüller D; Manukjan G; Hegert S; Durner J; Schuhmann E; Hörster F; Mütze U; Feyh P; Hoffmann GF; Röschinger W; Janzen N; Opladen T
Mol Genet Metab; 2024 Mar; 141(3):108148. PubMed ID: 38302374
[TBL] [Abstract][Full Text] [Related]
4. Aromatic L-amino acid decarboxylase deficiency in 17 Mainland China patients: Clinical phenotype, molecular spectrum, and therapy overview.
Dai W; Lu D; Gu X; Yu Y;
Mol Genet Genomic Med; 2020 Mar; 8(3):e1143. PubMed ID: 31975548
[TBL] [Abstract][Full Text] [Related]
5. Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.
Wassenberg T; Molero-Luis M; Jeltsch K; Hoffmann GF; Assmann B; Blau N; Garcia-Cazorla A; Artuch R; Pons R; Pearson TS; Leuzzi V; Mastrangelo M; Pearl PL; Lee WT; Kurian MA; Heales S; Flint L; Verbeek M; Willemsen M; Opladen T
Orphanet J Rare Dis; 2017 Jan; 12(1):12. PubMed ID: 28100251
[TBL] [Abstract][Full Text] [Related]
6. Antisense oligonucleotides modulate dopa decarboxylase function in aromatic l-amino acid decarboxylase deficiency.
Tsai CR; Lee HF; Chi CS; Yang MT; Hsu CC
Hum Mutat; 2018 Dec; 39(12):2072-2082. PubMed ID: 30260058
[TBL] [Abstract][Full Text] [Related]
7. When dysphoria is not a primary mental state: A case report of the role of the aromatic L-aminoacid decarboxylase.
Portaro S; Gugliandolo A; Scionti D; Cammaroto S; Morabito R; Leonardi S; Fraggetta F; Bramanti P; Mazzon E
Medicine (Baltimore); 2018 Jun; 97(22):e10953. PubMed ID: 29851841
[TBL] [Abstract][Full Text] [Related]
8. Automatically pre-screening patients for the rare disease aromatic l-amino acid decarboxylase deficiency using knowledge engineering, natural language processing, and machine learning on a large EHR population.
Cohen AM; Kaner J; Miller R; Kopesky JW; Hersh W
J Am Med Inform Assoc; 2024 Feb; 31(3):692-704. PubMed ID: 38134953
[TBL] [Abstract][Full Text] [Related]
9. Gene therapy for aromatic L-amino acid decarboxylase deficiency: Requirements for safe application and knowledge-generating follow-up.
Roubertie A; Opladen T; Brennenstuhl H; Kuseyri Hübschmann O; Flint L; Willemsen MA; Leuzzi V; Cazorla AG; Kurian MA; François-Heude MC; Hwu P; Zeev BB; Kiening K; Roujeau T; Pons R; Pearson TS
J Inherit Metab Dis; 2024 May; 47(3):463-475. PubMed ID: 37402126
[TBL] [Abstract][Full Text] [Related]
10. [Anesthetic Care of Children With Gene Therapy for the Treatment of Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency].
Li WC; Fan SZ
Hu Li Za Zhi; 2019 Feb; 66(1):107-114. PubMed ID: 30648251
[TBL] [Abstract][Full Text] [Related]
11. Burden of illness of aromatic L-amino acid decarboxylase deficiency: a survey of physicians in Southern Europe.
Saberian S; Rowan P; Hammes F; Patel P; Fernandez-Cortes F; Buesch K; Beitia Ortiz de Zarate I
Curr Med Res Opin; 2022 Jul; 38(7):1115-1123. PubMed ID: 35575170
[TBL] [Abstract][Full Text] [Related]
12. Prevalence of Aromatic l-Amino Acid Decarboxylase Deficiency in At-Risk Populations.
Hyland K; Reott M
Pediatr Neurol; 2020 May; 106():38-42. PubMed ID: 32111562
[TBL] [Abstract][Full Text] [Related]
13. AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients.
Pearson TS; Gilbert L; Opladen T; Garcia-Cazorla A; Mastrangelo M; Leuzzi V; Tay SKH; Sykut-Cegielska J; Pons R; Mercimek-Andrews S; Kato M; Lücke T; Oppebøen M; Kurian MA; Steel D; Manti F; Meeks KD; Jeltsch K; Flint L
J Inherit Metab Dis; 2020 Sep; 43(5):1121-1130. PubMed ID: 32369189
[TBL] [Abstract][Full Text] [Related]
14. A review of aromatic l-amino acid decarboxylase (AADC) deficiency in Taiwan.
Lee NC; Chien YH; Hwu WL
Am J Med Genet C Semin Med Genet; 2019 Jun; 181(2):226-229. PubMed ID: 30614627
[TBL] [Abstract][Full Text] [Related]
15. Aromatic L-Amino Acid Decarboxylase Deficiency: A Genetic Screening in Sicilian Patients with Neurological Disorders.
Santa Paola S; Di Blasi FD; Borgione E; Lo Giudice M; Giuliano M; Pettinato R; Di Stefano V; Brighina F; Lupica A; Scuderi C
Genes (Basel); 2024 Jan; 15(1):. PubMed ID: 38275615
[TBL] [Abstract][Full Text] [Related]
16. Semi-quantitative detection of a vanillactic acid/vanillylmandelic acid ratio in urine is a reliable diagnostic marker for aromatic L-amino acid decarboxylase deficiency.
Brennenstuhl H; Garbade SF; Okun JG; Feyh P; Hoffmann GF; Langhans CD; Opladen T
Mol Genet Metab; 2020; 131(1-2):163-170. PubMed ID: 32675002
[TBL] [Abstract][Full Text] [Related]
17. Aromatic L-amino acid decarboxylase deficiency: a new case with a mild clinical presentation and unexpected laboratory findings.
Abeling NG; van Gennip AH; Barth PG; van Cruchten A; Westra M; Wijburg FA
J Inherit Metab Dis; 1998 Jun; 21(3):240-2. PubMed ID: 9686366
[No Abstract] [Full Text] [Related]
18. The genetic and clinical characteristics of aromatic L-amino acid decarboxylase deficiency in mainland China.
Wen Y; Wang J; Zhang Q; Chen Y; Bao X
J Hum Genet; 2020 Sep; 65(9):759-769. PubMed ID: 32409695
[TBL] [Abstract][Full Text] [Related]
19. Aromatic L-amino acid decarboxylase deficiency is a cause of long-fasting hypoglycemia.
Arnoux JB; Damaj L; Napuri S; Serre V; Hubert L; Cadoudal M; Simard G; Ceballos I; Christa L; de Lonlay P
J Clin Endocrinol Metab; 2013 Nov; 98(11):4279-84. PubMed ID: 24037885
[TBL] [Abstract][Full Text] [Related]
20. A female case of aromatic l-amino acid decarboxylase deficiency responsive to MAO-B inhibition.
Kojima K; Anzai R; Ohba C; Goto T; Miyauchi A; Thöny B; Saitsu H; Matsumoto N; Osaka H; Yamagata T
Brain Dev; 2016 Nov; 38(10):959-963. PubMed ID: 27371992
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]