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Succinic Semialdehyde Dehydrogenase Deficiency: Review of the Natural History Study.

• Authors : Pearl PL; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; DiBacco ML

Subjects: Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*epidemiology ; Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*physiopathology ; Developmental Disabilities/Developmental Disabilities/Developmental Disabilities/*epidemiology succinic semialdehyde dehydrogenase deficiency

• Source: Journal of child neurology [J Child Neurol] 2021 Nov; Vol. 36 (13-14), pp. 1153-1161. Date of Electronic Publication: 2021 Jan 04.Publisher: Sage Country of Publication: United States NLM ID: 8606714 Publication Model: Print-Electronic Cited Medium:

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Symptoms and impact of aromatic l-amino acid decarboxylase (AADC) deficiency: a qualitative study and the development of a patient-centred conceptual model.

• Authors : Williams K; Patient-Centred Outcomes Research, Acaster Lloyd Consulting Ltd, London, UK.; Skrobanski H

Subjects: Amino Acid Metabolism, Inborn Errors* ; Quality of Life*; Amino Acids

• Source: Current medical research and opinion [Curr Med Res Opin] 2021 Aug; Vol. 37 (8), pp. 1353-1361. Date of Electronic Publication: 2021 Jun 07.Publisher: Informa Healthcare Country of Publication: England NLM ID: 0351014 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Prevalence of Aromatic l-Amino Acid Decarboxylase Deficiency in At-Risk Populations.

• Authors : Hyland K; Department of Neurochemistry, Medical Neurogenetics Laboratories, Atlanta, Georgia. Electronic address: .; Reott M

Subjects: Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*diagnosis ; Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*epidemiology ; Aromatic-L-Amino-Acid Decarboxylases/Aromatic-L-Amino-Acid Decarboxylases/Aromatic-L-Amino-Acid Decarboxylases/*deficiencyAromatic amino acid decarboxylase deficiency

• Source: Pediatric neurology [Pediatr Neurol] 2020 May; Vol. 106, pp. 38-42. Date of Electronic Publication: 2019 Dec 26.Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic

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Laboratory analysis of amino acids, 2018 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).

• Authors : Sharer JD; De Biase I ...

Subjects: Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*diagnosis ; Amino Acids/Amino Acids/Amino Acids/*genetics ; Metabolism, Inborn Errors/Metabolism, Inborn Errors/Metabolism, Inborn Errors/*diagnosis

• Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2018 Dec; Vol. 20 (12), pp. 1499-1507. Date of Electronic Publication: 2018 Oct 19.Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium:

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The impact of caring for an individual with aromatic l-amino acid decarboxylase (AADC) deficiency: a qualitative study and the development of a conceptual model.

• Authors : Skrobanski H; Patient-Centred Outcomes Research, Acaster Lloyd Consulting Ltd, London, United Kingdom.; Williams K

Subjects: Caregiver Burden*; Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*therapy ; Aromatic-L-Amino-Acid Decarboxylases/Aromatic-L-Amino-Acid Decarboxylases/Aromatic-L-Amino-Acid Decarboxylases/*deficiencyAromatic amino acid decarboxylase deficiency

• Source: Current medical research and opinion [Curr Med Res Opin] 2021 Oct; Vol. 37 (10), pp. 1821-1828. Date of Electronic Publication: 2021 Aug 01.Publisher: Informa Healthcare Country of Publication: England NLM ID: 0351014 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes.

• Authors : Summar ML; Vanderbilt University Medical Center, Nashville, TN, USA. ; Dobbelaere D

Subjects: Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*diagnosis ; Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*epidemiology ; Hyperammonemia/Hyperammonemia/Hyperammonemia/*diagnosis

• Source: Acta paediatrica (Oslo, Norway : 1992) [Acta Paediatr] 2008 Oct; Vol. 97 (10), pp. 1420-5. Date of Electronic Publication: 2008 Jul 17.Publisher: Wiley-Blackwell Country of Publication: Norway NLM ID: 9205968 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0803-5253

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Cross-sectional multicenter study of patients with urea cycle disorders in the United States.

• Authors : Tuchman M; Lee B ...

Subjects: Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*epidemiology ; Amino Acids/Amino Acids/Amino Acids/*metabolism ; Rare Diseases/Rare Diseases/Rare Diseases/*epidemiology

• Source: Molecular genetics and metabolism [Mol Genet Metab] 2008 Aug; Vol. 94 (4), pp. 397-402. Date of Electronic Publication: 2008 Jun 17.Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited

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Tandem mass spectrometry in newborn screening: a primer for neonatal and perinatal nurses.

• Authors : Banta-Wright SA; School of Medicine, Oregon Health & Science University, Portland, Ore 97239, USA. ; Steiner RD

Subjects: Neonatal Screening*/Neonatal Screening*/Neonatal Screening*/methods ; Spectrometry, Mass, Electrospray Ionization*/Spectrometry, Mass, Electrospray Ionization*/Spectrometry, Mass, Electrospray Ionization*/methods ; Spectrometry, Mass, Electrospray Ionization*/Spectrometry, Mass, Electrospray Ionization*/Spectrometry, Mass, Electrospray Ionization*/standards

• Source: The Journal of perinatal & neonatal nursing [J Perinat Neonatal Nurs] 2004 Jan-Mar; Vol. 18 (1), pp. 41-58; quiz 59-60.Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 8801387 Publication Model: Print Cited

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From the NIH: Therapy developed for group of fatal genetic diseases.

Subjects: Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*drug therapy ; Ammonia/Ammonia/Ammonia/*blood; Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/enzymology

• Source: JAMA [JAMA] 1981 Mar 06; Vol. 245 (9), pp. 917.Publisher: American Medical Association Country of Publication: United States NLM ID: 7501160 Publication Model: Print Cited

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Reimbursement for medical foods for inborn errors of metabolism. American Academy of Pediatrics Committee on Nutrition.

Subjects: Medical Assistance*; Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*diet therapy ; Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*economics

• Source: Pediatrics [Pediatrics] 1994 May; Vol. 93 (5), pp. 860.Publisher: American Academy of Pediatrics Country of Publication: United States NLM ID: 0376422 Publication Model: Print

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