Results for &quot;&quot;Muscle Hypotonia&quot;&quot;[mesh_terms]

Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin B metabolism: A meta-analysis.

Arnaud Wiedemann, Abderrahim Oussalah, Nathalie Lamireau, Maurane Théron, Melissa Julien, Jean-Philippe Mergnac, Baptiste Augay, Pauline Deniaud, Tom Alix, Marine Frayssinoux, François Feillet, Jean-Louis Guéant

Cell reports. Medicine 2022;3(7):100670

Anesthesiological approach to the floppy child.

Simonetta Tesoro, Edoardo DE Robertis, Federico Marturano, Hannerieke J VAN DEN Hout, Jurgen C DE Graaff

Minerva anestesiologica 2021;87(8):940-949

Nutritional frailty, sarcopenia and falls in the elderly.

John M Kinney

Current opinion in clinical nutrition and metabolic care 2004;7(1):15-20

PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature.

Christina L Magyar, David R Murdock, Lindsay C Burrage, Hongzheng Dai, Seema R Lalani, Richard A Lewis, Yuezhen Lin, Marcela F Astudillo, Jill A Rosenfeld, Alyssa A Tran, James B Gibson, Carlos A Bacino, Brendan H Lee, Hsiao-Tuan Chao

American journal of medical genetics. Part A 2022;188(6):1868-1874

The hypotonic infant: case study of central core disease.

Val Castrodale

Neonatal network : NN 2003;22(1):53-9

Broadening the spectrum phenotype of TBCE-related neuron neurodegeneration.

Roberta Battini, Roberta Milone, Chiara Aiello, Guja Astrea, Antonella Sferra, Rosa Pasquariello, Giovanni Cioni, Enrico Bertini

Brain & development 2022;43(9):939-944

Neonatal presentations of neuromuscular disorders.

Goknur Haliloglu

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2022;38():A6-A11

Clinical and ocular abnormalities in DEGCAGS syndrome-Developmental delay with gastrointestinal, cardiovascular, genitourinary, and skeletal abnormalities.

Syed M Ali, Dua A AlMasri, Carlos E Prada, Doris Lin, Thomas M Bosley, Igor Kozak

Molecular genetics & genomic medicine 2024;12(1):e2329

Recommendations for the diagnosis and management of childhood Prader-Willi syndrome in China.

Dai Yang-Li, Luo Fei-Hong, Zhang Hui-Wen, Ma Ming-Sheng, Luo Xiao-Ping, Liu Li, Wang Yi, Zhou Qing, Jiang Yong-Hui, Zou Chao-Chun

Orphanet journal of rare diseases 2022;17(1):221

HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H-TM protein.

Minna Kraatari-Tiri, Leila Soikkonen, Matti Myllykoski, Yalda Jamshidi, Ehsan G Karimiani, Jonna Komulainen-Ebrahim, Hanna Kallankari, Cyril Mignot, Christel Depienne, Boris Keren, Marie-Christine Nougues, Zahra Alsahlawi, Antonio Romito, Javier Martini, Mehran B Toosi, Christopher J Carroll, Kornelia Tripolszki, Peter Bauer, Johanna Uusimaa, Aida M Bertoli-Avella, Peppi Koivunen, Elisa Rahikkala

Clinical genetics 2022;102(5):444-450

Two Turkish patients with Primary Coenzyme Q10 Deficiency-7: case report and literature review.

Engin Köse, Fatma Tuba Eminoğlu, Gülreyhan Sonuç Kartal, Merve Koç Yekedüz

Journal of pediatric endocrinology & metabolism : JPEM 2024;37(3):260-270

Ultra-orphan diseases: a quantitative analysis of the natural history of molybdenum cofactor deficiency.

Konstantin Mechler, William K Mountford, Georg F Hoffmann, Markus Ries

Genetics in medicine : official journal of the American College of Medical Genetics 2016;17(12):965-70

MEGDEL Syndrome.

Josef Finsterer, Fulvio A Scorza, Ana C Fiorini, Carla A Scorza

Pediatric neurology 2021;110():25-29

Whole Exome Sequencing and Heterologous Cellular Electrophysiology Studies Elucidate a Novel Loss-of-Function Mutation in the CACNA1A-Encoded Neuronal P/Q-Type Calcium Channel in a Child With Congenital Hypotonia and Developmental Delay.

Derek L Weyhrauch, Dan Ye, Nicole J Boczek, David J Tester, Ralitza H Gavrilova, Marc C Patterson, Eric D Wieben, Michael J Ackerman

Pediatric neurology 2016;55():46-51