Results 161 to 170 of about 174,613,300 (296)

Glycine <i>N</i>-Acyltransferase Deficiency due to a Homozygous Nonsense Variant in the <i>GLYAT</i>: A Novel Inborn Error of Metabolism. [PDF]

JIMD Rep
Nourbakhsh M, Miryounesi M, Tale A, Karimzadeh P, Sadeghi H, Ghasemi MR, Alipour N, Pourbakhtyaran E, Hooman N, Razzaghy-Azar M, Nourbakhsh M, Klaas L, Schulke D, Sass JO.   +13 more
europepmc   +1 more source

Advances in inborn errors of metabolism [PDF]

Journal of Human Genetics, 2019
Toshiyuki, Fukao, Kimitoshi, Nakamura
openaire   +2 more sources

Cloning of Dimethylglycine Dehydrogenase and a New Human Inborn Error of Metabolism, Dimethylglycine Dehydrogenase Deficiency

, 2008
Dimethylglycine dehydrogenase (DMGDH) (E.C. number 1.5.99.2) is a mitochondrial matrix enzyme involved in the metabolism of choline, converting dimethylglycine to sarcosine. Sarcosine is then transformed to glycine by sarcosine dehydrogenase (E.C. number
HWU, WUH-LIANG, 胡務亮
core  

Cancer pain: current practice and emerging targets

British Journal of Pharmacology, EarlyView.
Cancer pain (CP) arises from a complex interplay between the tumour and its microenvironment. Many patients experience a mixed pain phenotype that encompasses nociceptive, neuropathic and neuroinflammatory mechanisms, and vary across tumour type and disease stage. Despite decades of intensive research, the mainstay of cancer pain treatment is still non‐
Yi Ye, Marcin Chwistek, Zhiting Gong, Vanessa Uzonwanne, Xiaojie Shi, Arpad Szallasi   +5 more
wiley   +1 more source

A treatable inborn error of metabolism presenting in the sixth decade. [PDF]

BMJ Case Rep
Martin SJ, Davidson A, Murdoch S, Selvarajah J.   +3 more
europepmc   +1 more source

Effects of lifelong sulforaphane intake on behavioural, neurochemical and biomolecular dysfunctions in the BTBR T+ Itpr3tf/J mouse model of autism spectrum disorders

British Journal of Pharmacology, EarlyView.
Created in BioRender. Schiavone, S. (2026). https://BioRender.com/cy0xq6z. Abstract Background and Purpose Autism spectrum disorders (ASD) are multifactorial neurodevelopmental conditions associated with oxidative stress and neuroinflammation across critical developmental periods.
Vladyslav Sikora, Maria Bove, Lisa Pia Agosti, Rossella Pia Palmieri, Mohsin Zafar, Paolo Tucci, Maria Grazia Morgese, Stefania Schiavone, Luigia Trabace   +8 more
wiley   +1 more source

The impact of a child's inborn error of metabolism: the parents' perspectives on restrictions, discrimination, family planning, and emergency management. [PDF]

Orphanet J Rare Dis
Harings T, Neininger MP, Eisenhofer S, Thiele AG, Kiess W, Bertsche A, Bertsche T, Beblo S.   +7 more
europepmc   +1 more source

Highly potent, brain‐penetrant EP2 receptor antagonists for the treatment of permanent focal cerebral ischaemia in male and female mice

British Journal of Pharmacology, EarlyView.
Abstract Background and Purpose Cerebral ischaemia is a leading cause of death in older adults and imposes a substantial global economic burden. Recent studies indicate that inhibiting the Gαs‐coupled EP2 receptor reduces ischaemic brain injury by modulating neuroinflammation.
Zhen Jin, Chenyao Jiang, Eun Bee Cho, M. Dennis Leo, Jiukuan Hao, Jiawang Liu, Ying Yu, Jianxiong Jiang   +7 more
wiley   +1 more source

Pearson syndrome: a rare inborn error of metabolism with bone marrow morphology providing a clue to diagnosis. [PDF]

Sudan J Paediatr, 2019
Reddy JM, Jose J, Prakash A, Devi S.
europepmc   +1 more source

Expanding the Biochemical Phenotype of ReNU Syndrome: A Case Report

Clinical Genetics, EarlyView.
This report detailed the clinical findings and the biochemical phenotype of a 3‐year‐old girl with ReNU syndrome. Circulating biomarkers and a muscle biopsy s uggested mild mitochondrial abnormalities. Severe plasmalogen deficiency was also observed, comparable to defects of peroxisomal plasmalogen biosynthesis.
Irene De Biase, McKall Johnson, Qinwen Mao, Vanina L. Taliercio, Stacey L. Cole   +4 more
wiley   +1 more source