Search Results - "Maple"

Cerebral edema in maple syrup urine disease: spectrum of clinical presentation and treatment outcomes.

Authors: Sulaiman RA Altassan R Alshammari R et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2025 Nov 19; Vol. 20 (1), pp. 594. Date of Electronic Publication: 2025 Nov 19.

Publication Type: Journal Article; Review

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Domino Hepatectomy and Implantation With Innovative Outflow Reconstruction for an Adult Patient With Maple Syrup Urine Disease and Type 1 Diabetes Mellitus: Surgical Technique.

Authors: Kapoor S Kapoor K Chen ME et al.

Source: Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation [Exp Clin Transplant] 2025 Nov; Vol. 23 (11), pp. 743-747.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Bas̜kent University Country of Publication: Turkey NLM ID: 101207333 Publication Model: Print Cited Medium: Internet ISSN: 2146-8427 (Electronic) Linking ISSN: 13040855 NLM ISO Abbreviation: Exp Clin Transplant Subsets: MEDLINE

Treatment strategies, radiological recovery, and neurodevelopmental outcomes in paediatric Maple Syrup Urine Disease: a 20-year single-centre experience from Türkiye.

Authors: Uylaş K Yazıcı H Altınok YA et al.

Source: Metabolic brain disease [Metab Brain Dis] 2026 Jun 22; Vol. 41 (1). Date of Electronic Publication: 2026 Jun 22.

Publication Type: Journal Article

Journal Info: Publisher: Springer Country of Publication: United States NLM ID: 8610370 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-7365 (Electronic) Linking ISSN: 08857490 NLM ISO Abbreviation: Metab Brain Dis Subsets: MEDLINE

Trial-ready external controls for gene therapy: The MATCH cohort in maple syrup urine disease.

Authors: Brigatti KW Rodrigues A Sweigert E et al.

Source: Cell reports. Medicine [Cell Rep Med] 2026 Jun 16; Vol. 7 (6), pp. 102799. Date of Electronic Publication: 2026 May 12.

Publication Type: Journal Article

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 101766894 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-3791 (Electronic) Linking ISSN: 26663791 NLM ISO Abbreviation: Cell Rep Med Subsets: MEDLINE

Early laboratory indicators of acute metabolic decompensation during emergency presentations in pediatric maple syrup urine disease.

Authors: Oral-Cebeci S Aktuğlu-Zeybek Ç Aslan B et al.

Source: European journal of pediatrics [Eur J Pediatr] 2026 May 19; Vol. 185 (6). Date of Electronic Publication: 2026 May 19.

Publication Type: Journal Article

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7603873 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-1076 (Electronic) Linking ISSN: 03406199 NLM ISO Abbreviation: Eur J Pediatr Subsets: MEDLINE

Adenine base editing rescues disrupted BCKDH function and reduces BCAAs toxic accumulation in maple syrup urine disease patient iPSC-hepatic organoids.

Authors: Zhang H Wan Z Li X et al.

Source: Stem cell research & therapy [Stem Cell Res Ther] 2025 Sep 26; Vol. 16 (1), pp. 512. Date of Electronic Publication: 2025 Sep 26.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101527581 Publication Model: Electronic Cited Medium: Internet ISSN: 1757-6512 (Electronic) Linking ISSN: 17576512 NLM ISO Abbreviation: Stem Cell Res Ther Subsets: MEDLINE

Alterations in gut microbiota composition in children with methylmalonic acidemia, propionic acidemia, and maple syrup urine disease.

Authors: Gokalp S Dinleyici EC Muluk C et al.

Source: European journal of clinical nutrition [Eur J Clin Nutr] 2026 May; Vol. 80 (5), pp. 469-475. Date of Electronic Publication: 2026 Mar 23.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 8804070 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5640 (Electronic) Linking ISSN: 09543007 NLM ISO Abbreviation: Eur J Clin Nutr Subsets: MEDLINE

fNIRS insights into brain biomarkers of maple syrup urine disease (MSUD).

Authors: Khaksari K Tucker K Blackshear C et al.

Source: Molecular genetics and metabolism [Mol Genet Metab] 2026 Aug; Vol. 148 (4), pp. 110168. Date of Electronic Publication: 2026 Jun 05.

Publication Type: Journal Article

Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

Expanding the Genetic Spectrum of PPM1K-Related Maple Syrup Urine Disease: A Novel Mutation.

Authors: Kılıç M Sayar E İcil S et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2025 Jul; Vol. 197 (7), pp. e64037. Date of Electronic Publication: 2025 Mar 06.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Nodular Regenerative Hyperplasia Is a Frequent Finding in Explanted Livers of Patients With Maple Syrup Urine Disease.

Authors: Shui Y Geng Y Naini BV et al.

Source: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society [Pediatr Dev Pathol] 2025 Jul-Aug; Vol. 28 (4), pp. 273-280. Date of Electronic Publication: 2025 Apr 17.

Publication Type: Journal Article

Journal Info: Publisher: SAGE Publishing Country of Publication: United States NLM ID: 9809673 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1615-5742 (Electronic) Linking ISSN: 10935266 NLM ISO Abbreviation: Pediatr Dev Pathol Subsets: MEDLINE

Metformin therapy to facilitate weight loss in adults with classic maple syrup urine disease.

Authors: Rodrigues A Sweigert E Robinson D et al.

Source: Molecular genetics and metabolism [Mol Genet Metab] 2026 Mar; Vol. 147 (3), pp. 109730. Date of Electronic Publication: 2026 Jan 07.

Publication Type: Journal Article

Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

Assembly of Branched Chain Amino Acids to Toxic Fibrils may be Related to Pathogenesis of Maple Syrup Urine Disease.

Authors: Kanth P C Patel M Dave R et al.

Source: Chembiochem : a European journal of chemical biology [Chembiochem] 2025 Jul 11; Vol. 26 (13), pp. e202500092. Date of Electronic Publication: 2025 Jun 17.

Publication Type: Journal Article

Journal Info: Publisher: Wiley-VCH Verlag Country of Publication: Germany NLM ID: 100937360 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1439-7633 (Electronic) Linking ISSN: 14394227 NLM ISO Abbreviation: Chembiochem Subsets: MEDLINE

Unlocking hope: domino liver transplantation for maple syrup syndrome, a single center experience work carried out at the King Fahad Specialist Hospital.

Authors: Al Qahtani M Aloufi R Gaw E et al.

Source: Frontiers in immunology [Front Immunol] 2025 May 01; Vol. 16, pp. 1579945. Date of Electronic Publication: 2025 May 01 (Print Publication: 2025).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101560960 Publication Model: eCollection Cited Medium: Internet ISSN: 1664-3224 (Electronic) Linking ISSN: 16643224 NLM ISO Abbreviation: Front Immunol Subsets: MEDLINE

Phosphatase activity-based PPM1K: a key player in the regulation of mitochondrial function and its multifaceted impact in diseases.

Authors: Mao Y Feng J

Source: Molecular and cellular biochemistry [Mol Cell Biochem] 2025 May; Vol. 480 (5), pp. 2815-2826. Date of Electronic Publication: 2024 Dec 18.

Publication Type: Journal Article; Review

Journal Info: Publisher: Springer Country of Publication: Netherlands NLM ID: 0364456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-4919 (Electronic) Linking ISSN: 03008177 NLM ISO Abbreviation: Mol Cell Biochem Subsets: MEDLINE

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Simplifying supplementation in MSUD: tolerance and acceptability of liquid valine and isoleucine supplements in maple syrup urine disease.

Authors: Tosi M Daly A Evans S et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2026 Apr 02; Vol. 21 (1). Date of Electronic Publication: 2026 Apr 02.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Seizure Characteristics and EEG Features in Intoxication Type and Energy Deficiency Neurometabolic Disorders in the Pediatric Intensive Care Unit: Single-Center Experience Over 10 Years.

Authors: Sen K Harrar D Pariseau N et al.

Source: Neurocritical care [Neurocrit Care] 2025 Apr; Vol. 42 (2), pp. 562-572. Date of Electronic Publication: 2024 Aug 13.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Humana Press Country of Publication: United States NLM ID: 101156086 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1556-0961 (Electronic) Linking ISSN: 15416933 NLM ISO Abbreviation: Neurocrit Care Subsets: MEDLINE

Spectrum of genetic variants associated with maple syrup urine disease in the Middle East, North Africa, and Türkiye (MENAT): a systematic review.

Authors: Younes S Elkahlout R Kilani H et al.

Source: BMC medical genomics [BMC Med Genomics] 2025 Mar 13; Vol. 18 (1), pp. 49. Date of Electronic Publication: 2025 Mar 13.

Publication Type: Systematic Review; Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794 (Electronic) Linking ISSN: 17558794 NLM ISO Abbreviation: BMC Med Genomics Subsets: MEDLINE

Contribution of Brain Intrinsic Branched-Chain Amino Acid Metabolism in a Novel Mouse Model of Maple Syrup Urine Disease.

Authors: Kuhs AC Ohl L Thurston T et al.

Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2025 Mar; Vol. 48 (2), pp. e70003.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Functional connectivity changes in mouse models of maple syrup urine disease.

Authors: Lavery S Adepoju TE Fisher HB et al.

Source: Cerebral cortex (New York, N.Y. : 1991) [Cereb Cortex] 2025 Feb 05; Vol. 35 (2).

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Oxford University Press Country of Publication: United States NLM ID: 9110718 Publication Model: Print Cited Medium: Internet ISSN: 1460-2199 (Electronic) Linking ISSN: 10473211 NLM ISO Abbreviation: Cereb Cortex Subsets: MEDLINE