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121 results for Amino+Acid+Metabolism,+Inborn+Errors+-+therapy

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ArticlesPeer ReviewedFull Text
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
Author / Creator:Baumgartner, Matthias R ; Hörster, Friederike ; Dionisi-Vici, Carlo ; Haliloglu, Goknur ; Karall, Daniela ; Chapman, Kimberly A ; Huemer, Martina ; Hochuli, Michel ; Assoun, Murielle ; Ballhausen, Diana ; Burlina, Alberto ; Fowler, Brian ; Grünert, Sarah C ; Grünewald, Stephanie ; Honzik, Tomas ; Merinero, Begoña ; Pérez-Cerdá, Celia ; Scholl-Bürgi, Sabine ; Skovby, Flemming ; Wijburg, Frits ; MacDonald, Anita ; Martinelli, Diego ; Sass, Jörn Oliver ; Valayannopoulos, Vassili ; Chakrapani, Anupam
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2014-09, Vol.9 (1), p.130-130, Article 130
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Messenger RNA therapy for rare genetic metabolic diseases
Author / Creator:Berraondo, Pedro ; Martini, Paolo G V ; Avila, Matias A ; Fontanellas, Antonio
Publisher:England: BMJ Publishing Group LTD
Journal title:Gut, 2019-07, Vol.68 (7), p.1323-1330
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Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency
Author / Creator:Wassenberg, Tessa ; Molero-Luis, Marta ; Jeltsch, Kathrin ; Hoffmann, Georg F. ; Assmann, Birgit ; Blau, Nenad ; Garcia-Cazorla, Angeles ; Artuch, Rafael ; Pons, Roser ; Pearson, Toni S. ; Leuzzi, Vincenco ; Mastrangelo, Mario ; Pearl, Phillip L. ; Lee, Wang Tso ; Kurian, Manju A. ; Heales, Simon ; Flint, Lisa ; Verbeek, Marcel ; Willemsen, Michèl ; Opladen, Thomas
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2017-01, Vol.12 (1), p.12-12, Article 12
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Impact of newborn screening and quality of therapy on the neurological outcome in glutaric aciduria type 1: a meta-analysis
Author / Creator:Boy, Nikolas ; Mengler, Katharina ; Heringer-Seifert, Jana ; Hoffmann, Georg F. ; Garbade, Sven F. ; Kölker, Stefan
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2021-01, Vol.23 (1), p.13-21
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Characterizing the mechanism of action for mRNA therapeutics for the treatment of propionic acidemia, methylmalonic acidemia, and phenylketonuria
Author / Creator:Baek, Rena ; Coughlan, Kimberly ; Jiang, Lei ; Liang, Min ; Ci, Lei ; Singh, Harkewal ; Zhang, Hannah ; Kaushal, Neeraj ; Rajlic, Ivana Liric ; Van, Linh ; Dimen, Rain ; Cavedon, Alexander ; Yin, Ling ; Rice, Lisa ; Frassetto, Andrea ; Guey, Lin ; Finn, Patrick ; Martini, Paolo G. V.
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2024-05, Vol.15 (1), p.3804-3804, Article 3804
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Diagnosis and management of glutaric aciduria type I – revised recommendations
Author / Creator:Kölker, Stefan ; Christensen, Ernst ; Leonard, James V. ; Greenberg, Cheryl R. ; Boneh, Avihu ; Burlina, Alberto B. ; Burlina, Alessandro P. ; Dixon, Marjorie ; Duran, Marinus ; García Cazorla, Angels ; Goodman, Stephen I. ; Koeller, David M. ; Kyllerman, Mårten ; Mühlhausen, Chris ; Müller, Edith ; Okun, Jürgen G. ; Wilcken, Bridget ; Hoffmann, Georg F. ; Burgard, Peter
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2011-06, Vol.34 (3), p.677-694
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Clinically meaningful improvements after gene therapy for aromatic L-amino acid decarboxylase deficiency (AADCd) in the Peabody Developmental Motor Scale, Second Edition (PDMS-2) and correlation with...
Author / Creator:Hwu, Wuh-Liang ; Lee, Hui-Min ; Peipert, John Devin ; Zhang, Rongrong ; Werner, Christian ; Sierra, J Rafael ; O'Connell, Thomas ; Woolley, Jonathan J ; Crowell, Marjorie ; Wang, Antonia ; Tomazos, Ioannis
Publisher:England: BioMed Central
Journal title:Orphanet journal of rare diseases, 2025-02, Vol.20 (1), p.58-9
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A robust high-throughput screening system to assess bacterial tyrosine ammonia lyase activity in the context of tyrosine inherited metabolic disorders
Author / Creator:Nulmans, Ine ; Laga, Camille Annie ; Salvi, Nina Stefanie ; Desmet, Liesbeth ; Lequeue, Sien ; Neuckermans, Jessie ; Schwaneberg, Ulrich ; De Kock, Joery
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2024-09, Vol.14 (1), p.22175-13, Article 22175
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Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists
Author / Creator:Kalantari, Silvia ; Brezzi, Brigida ; Bracciamà, Valeria ; Barreca, Antonella ; Nozza, Paolo ; Vaisitti, Tiziana ; Amoroso, Antonio ; Deaglio, Silvia ; Manganaro, Marco ; Porta, Francesco ; Spada, Marco
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2022-02, Vol.17 (1), p.33-33, Article 33
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Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy
Author / Creator:Huemer, Martina ; Scholl-Bürgi, Sabine ; Hadaya, Karine ; Kern, Ilse ; Beer, Ronny ; Seppi, Klaus ; Fowler, Brian ; Baumgartner, Matthias R ; Karall, Daniela
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2014-11, Vol.9 (1), p.161-161, Article 161
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Neurodegenerative Etiology of Aromatic L-Amino Acid Decarboxylase Deficiency: a Novel Concept for Expanding Treatment Strategies
Author / Creator:Sternberg, Zohi
Publisher:New York: Springer US
Journal title:Molecular neurobiology, 2024-05, Vol.61 (5), p.2996-3018
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An Early Cost-Utility Model of mRNA-Based Therapies for the Treatment of Methylmalonic and Propionic Acidemia in the United Kingdom
Author / Creator:Bretos-Azcona, Pablo E. ; Wallace, Matthew ; Jootun, Murvin ; Jin, Guanyi ; Agirrezabal, Ion ; Szende, Agota
Publisher:New Zealand: Springer Nature B.V
Journal title:Clinical drug investigation, 2024-06, Vol.44 (6), p.399-412
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Review of neuropsychological outcomes in isolated methylmalonic acidemia: recommendations for assessing impact of treatments
Author / Creator:Waisbren, Susan E.
Publisher:New York: Springer US
Journal title:Metabolic brain disease, 2022-06, Vol.37 (5), p.1317-1335
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Isolated sulfite oxidase deficiency
Author / Creator:Claerhout, Helena ; Witters, Peter ; Régal, Luc ; Jansen, Katrien ; Van Hoestenberghe, Marie-Rose ; Breckpot, Jeroen ; Vermeersch, Pieter
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2018-01, Vol.41 (1), p.101-108
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Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and literature review
Author / Creator:Abukhaled, Musaad ; Al Muqbil, Mohammed ; Alghamdi, Malak Ali ; Hundallah, Khalid ; Suleiman, Jehan ; Ben-Omran, Tawfeg ; Alfadhel, Majid ; Almannai, Mohammed ; Alsaleh, Rehab ; Tabarki, Brahim
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:European journal of pediatrics, 2023-06, Vol.182 (6), p.2535-2545
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Methylmalonic acidemia/propionic acidemia – the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups
Author / Creator:Chu, Tzu-Hung ; Chien, Yin-Hsiu ; Lin, Hsiang-Yu ; Liao, Hsuan-Chieh ; Ho, Huey-Jane ; Lai, Chih-Jou ; Chiang, Chuan-Chi ; Lin, Niang-Cheng ; Yang, Chia-Feng ; Hwu, Wuh-Liang ; Lee, Ni-Chung ; Lin, Shuan-Pei ; Liu, Chin-Su ; Hu, Rey-Heng ; Ho, Ming-Chih ; Niu, Dau-Ming
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2019-04, Vol.14 (1), p.73-73, Article 73
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Treatment of HMG-CoA Lyase Deficiency—Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases
Author / Creator:Thompson, Susan ; Hertzog, Ashley ; Selvanathan, Arthavan ; Batten, Kiera ; Lewis, Katherine ; Nisbet, Janelle ; Mitchell, Ashleigh ; Dalkeith, Troy ; Billmore, Kate ; Moore, Francesca ; Tolun, Adviye Ayper ; Devanapalli, Beena ; Bratkovic, Drago ; Hilditch, Cathie ; Rahman, Yusof ; Tchan, Michel ; Bhattacharya, Kaustuv
Publisher:Switzerland: MDPI AG
Journal title:Nutrients, 2023-01, Vol.15 (3), p.531
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Clinical and electroencephalogram characteristics of methylmalonic acidemia with MMACHC and MUT gene mutations
Author / Creator:Yuan, Yujun ; Ma, Ying ; Wu, Qiong ; Huo, Liang ; Liu, Chun-Feng ; Liu, Xueyan
Publisher:England: BioMed Central Ltd
Journal title:BMC pediatrics, 2024-02, Vol.24 (1), p.119-119, Article 119
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Overview of symptoms and treatment for lysinuric protein intolerance
Author / Creator:Noguchi, Atsuko ; Takahashi, Tsutomu
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2019-09, Vol.64 (9), p.849-858
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Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder
Author / Creator:Tokatly Latzer, Itay ; Roullet, Jean-Baptiste ; Afshar-Saber, Wardiya ; Lee, Henry H. C. ; Bertoldi, Mariarita ; McGinty, Gabrielle E. ; DiBacco, Melissa L. ; Arning, Erland ; Tsuboyama, Melissa ; Rotenberg, Alexander ; Opladen, Thomas ; Jeltsch, Kathrin ; García-Cazorla, Àngels ; Juliá-Palacios, Natalia ; Gibson, K. Michael ; Sahin, Mustafa ; Pearl, Phillip L.
Publisher:England: BioMed Central Ltd
Journal title:Journal of neurodevelopmental disorders, 2024-04, Vol.16 (1), p.21-15, Article 21
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Showing 1 to 20 of 121 results

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Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

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Messenger RNA therapy for rare genetic metabolic diseases

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Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency

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Impact of newborn screening and quality of therapy on the neurological outcome in glutaric aciduria type 1: a meta-analysis

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Characterizing the mechanism of action for mRNA therapeutics for the treatment of propionic acidemia, methylmalonic acidemia, and phenylketonuria

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Diagnosis and management of glutaric aciduria type I – revised recommendations

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Clinically meaningful improvements after gene therapy for aromatic L-amino acid decarboxylase deficiency (AADCd) in the Peabody Developmental Motor Scale, Second Edition (PDMS-2) and correlation with...

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A robust high-throughput screening system to assess bacterial tyrosine ammonia lyase activity in the context of tyrosine inherited metabolic disorders

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Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists

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Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy

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Neurodegenerative Etiology of Aromatic L-Amino Acid Decarboxylase Deficiency: a Novel Concept for Expanding Treatment Strategies

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An Early Cost-Utility Model of mRNA-Based Therapies for the Treatment of Methylmalonic and Propionic Acidemia in the United Kingdom

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Review of neuropsychological outcomes in isolated methylmalonic acidemia: recommendations for assessing impact of treatments

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Isolated sulfite oxidase deficiency

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Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and literature review

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Methylmalonic acidemia/propionic acidemia – the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups

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Treatment of HMG-CoA Lyase Deficiency—Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases

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Clinical and electroencephalogram characteristics of methylmalonic acidemia with MMACHC and MUT gene mutations

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Overview of symptoms and treatment for lysinuric protein intolerance

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Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder

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