Results 101 to 110 of about 350 (155)

New‐Onset Acute Heart Failure With Reduced Ejection Fraction Associated With Severe Microcytic Anemia

Clinical Case Reports, Volume 14, Issue 6, June 2026.
Graphical abstract summarizing a case of new‐onset HFrEF associated with profound microcytic anemia, highlighting severe anemia as a potential reversible trigger of acute cardiac decompensation. ABSTRACT Severe microcytic anemia may serve as a potentially reversible precipitating factor in heart failure with reduced ejection fraction (HFrEF). This case
Annabel Ricci, Cassandra Hunt, Chabelly Gomez, Gerson Santafe, Aimee Gonzalez, Martha Duarte   +5 more
wiley   +1 more source

GAMT deficiency: Features, treatment, and outcome in an inborn error of creatine synthesis

, 2006
BACKGROUND: autosomal recessive disorder of creatine synthesis. The authors analyzed clinical, biochemical, and molecular findings in 27 patients. METHODS: The authors collected data from questionnaires and literature reports. A score including degree of
Salomons, G. S., Duran, M., S. Mercimek Mahmutoglu, Fernandez-Alvarez, E., E. Wilichowski, Jakobsen, Jannik E., van der Knaap, M. S., R. Vasconcelos, Araújo, H. Caldeira, S. Stoeckler Ipsiroglu, A. Muhl, A. Adami, Stoeckler-Ipsiroglu, S., Muehl, A., R. Ensenauer, Appleton, R., Vilarinho, L., C. B. Item, Wilichowski, E., Leuzzi, V., Vasconcelos, R., G. S. Salomons, M. Duran, I. Marquardt, H. C. Araujo, Grolik, C., Item, C. B., van der Knaap, Marjo S., R. Surtees, Schulze, A., LEUZZI, Vincenzo, Mühl, A., Surtees, R., P. Garcia, Verhoeven, N. M., M. S. Van Der Knaap, Surtees, Robert, Saelke-Kellermann, R. A., L. Vilarinho, R. A. Saelke Kellermann, Ensenauer, R., Garcia, P., Marquardt, I., N. M. Verhoeven, Ensenauer, Regina, R. Appleton, Adami, A., Jakobs, C., C. Grolik, C. Jakobs, E. Fernandez Alvarez, A. Schulze, Schulze, Andreas, Mercimek-Mahmutoglu, S.   +53 more
core   +1 more source

Fusogenic Liposomes for the Intracellular Delivery of Phosphocreatine

Pharmaceuticals
Background/Objective: Maintaining intracellular adenosine triphosphate (ATP) levels is essential for numerous cellular functions, including energy metabolism, muscle contraction, and nerve impulse transmission.
Okhil K. Nag, Eunkeu Oh, James B. Delehanty   +2 more
doaj   +1 more source

Heterozygous females from a rat model for creatine transporter deficiency reveal altered behavioral response to stressors, normal body weight and slight metabolic changes

Frontiers in Neuroscience
Creatine (Cr) is an organic acid essential for recycling ATP, important in tissues with high energy demand such as muscle or brain. Cr is synthesized in a 2-step pathway by the enzymes AGAT and GAMT, and transported by SLC6A8 (also called CrT).
Lara Duran-Trio, Marc Lanzillo, Dunja Simicic, Clothilde Roux-Petronelli, Stephen J. Bruce, Carmen Sandi, Cristina Cudalbu, Cristina Cudalbu, Olivier Braissant   +8 more
doaj   +1 more source

The Role of Magnetic Resonance Spectroscopy (MRS), Diffusion‐Tensor‐Imaging (DTI) and Structural MRI in the Alzheimer's Disease and Mild Cognitive Impairment Diagnosis: A Review

Journal of Magnetic Resonance Imaging, Volume 63, Issue 6, Page 1509-1545, June 2026.
ABSTRACT Alzheimer's disease (AD) is one of the most common neurological disorders affecting older adults, with approximately 7.2 million cases only in the United States. This number is projected to increase to 13.8 million in the United States by 2060, leading to increased expenditures for healthcare, long‐term care and hospice services. Consequently,
Valentina Zecca, Gianmauro Palombelli, Nicola Vanacore, Rossella Canese   +3 more
wiley   +1 more source

Dystrophinopathy with a DMD exon 49–50 deletion in a female patient who developed schizophrenia: An autopsy case

Psychiatry and Clinical Neurosciences Reports, Volume 5, Issue 2, June 2026.
Abstract Background Mutations in DMD affect not only muscles but also the brain. Cases of schizophrenia with DMD mutations have been described previously. Although female dystrophinopathy often has a milder phenotype, some affected females also have intellectual disabilities and psychiatric disorders.
Shusei Arafuka, Youta Torii, Ayako Miwa, Itaru Kushima, Hirotaka Sekiguchi, Hiroshige Fujishiro, Chikako Habuchi, Hiroaki Miyahara, Yosuke Kawai, Ran Wei, Katsushi Tokunaga, Norio Ozaki, Mari Yoshida, Shuji Iritani, Yasushi Iwasaki, Masashi Ikeda   +15 more
wiley   +1 more source

Expert Consensus on Trendelenburg Position Postless Hip Distraction Technique in Hip Arthroscopy

Orthopaedic Surgery, Volume 18, Issue 6, Page 1103-1115, June 2026.
This work evaluates the Trendelenburg position postless hip distraction technique for hip arthroscopy, highlighting its safety, efficacy, cost‐effectiveness, and key clinical application points. ABSTRACT Postless hip distraction technique is a novel traction method for hip arthroscopy developed in recent years.
Yaoting Wang, Lingxing Jiang, Jiakai Sun, Hao Fu, Mingxing Wang, Long Wang, Xiaoqi Kang, Jia Zhang, Jianquan Wang, Yujie Liu, Qingfeng Yin, Chunbao Li   +11 more
wiley   +1 more source

Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide

, 2015
Arginine:glycine aminotransferase (AGAT) (GATM) deficiency is an autosomal recessive inborn error of creative synthesis. We performed an international survey among physicians known to treat patients with AGAT deficiency, to assess clinical ...
Nouioua, Sonia, Wierenga, Klaas J, Johnston, Katherine, DeBrosse, Suzanne, Tazir, Meriem, Wong, Lee-Jun C, Stockler-Ipsiroglu, Sylvia, Zhang, Victor, Verma, Ashok, Edvardson, Simon, Wierenga, Andrea M, Eichler, Florian, Dessoffy, Kimberley, Dowling, Monica D, Apatean, Delia, Koeller, David M, Battini, Roberta   +16 more
core   +1 more source

Creatine deficiency syndrome could be missed easily : a case report of guanidinoacetate methyltransferase deficiency presented with neurodevelopmental delay, seizures, and behavioral changes, but normal structural MRI

, 2016
: A case with GAMT deficiency (homozygous c.64dupG mutation) presented with neurodevelopmental delay, rare seizures, behavioral disturbances, and mild hypotonia, posing diagnostic challenges.
Ivanova, Mariya, Pacheva, Iliyana, Ivanov, Ivan, Penkov, Marin, Jordanova, Albena, Kancheva, Daliya   +5 more
core  

Sanfilippo syndrome type A with acute metabolic acidosis: a case report of the first documented SGSH c.571G > A homozygous mutation

BMC Pediatrics
Background Mucopolysaccharidosis type III (MPS III, Sanfilippo syndrome) is an autosomal recessive lysosomal storage disorder characterized by progressive central nervous system degeneration and behavioral abnormalities.
Haiying Zou, Li Yang, Yao Qin, Renlong Zhang   +3 more
doaj   +1 more source