Works matching DE "MUSCLE hypotonia"

Results: 689

Stuve Wiedemann syndrome and related syndromes: case report and possible anesthetic complications.

Published in:

Pediatric Anesthesia, 2009, v. 19, n. 3, p. 212, doi. 10.1111/j.1460-9592.2008.02891.x

By:

Bonthuis, Dominique;
Morava, Eva;
Booij, Leo H. D. J.;
Driessen, Jacques J.

Publication type:

Article

Anesthesia and Prader–Willi syndrome: preliminary experience with regional anesthesia.

Published in:

Pediatric Anesthesia, 2006, v. 16, n. 7, p. 712, doi. 10.1111/j.1460-9592.2006.01968.x

By:

Legrand, Ryan;
Tobias, Joseph D.

Publication type:

Article

Perioperative management of a child with short-chain acyl-CoA dehydrogenase deficiency.

Published in:

Pediatric Anesthesia, 2005, v. 15, n. 9, p. 771, doi. 10.1111/j.1460-9592.2005.01507.x

By:

Turpin, Brian;
Tobias, Joseph D.

Publication type:

Article

Does muscle biopsy change the treatment of pediatric muscular disease?

Published in:

2018

By:

Sujka, Joseph A.;
Le, Nhatrang;
Sobrino, Justin;
Benedict, Leo A.;
Rentea, Rebecca;
Alemayehu, Hanna;
St. Peter, Shawn D.

Publication type:

journal article

Prune belly syndrome.

Published in:

Pediatric Surgery International, 2012, v. 28, n. 3, p. 219, doi. 10.1007/s00383-011-3046-6

By:

Hassett, S.;
Smith, G.;
Holland, A.

Publication type:

Article

High flow priapism: diagnosis and treatment in pediatric population.

Published in:

2011

By:

Corbetta, Juan;
Durán, Víctor;
Burek, Carol;
Sager, Cristian;
Weller, Santiago;
Paz, Enrique;
Lopez, Juan;
Corbetta, Juan Pablo;
Durán, Víctor;
Lopez, Juan Carlos

Publication type:

journal article

Congenital cervical kyphosis in an infant with Ehlers-Danlos syndrome.

Published in:

2018

By:

Kobets, Andrew J.;
Komlos, Daniel;
Houten, John K.

Publication type:

Case Study

Intra and inter-observer reliability of determining degree of pelvic obliquity in neuromuscular scoliosis using the EOS-CHAIR® protocol.

Published in:

Child's Nervous System, 2017, v. 33, n. 2, p. 337, doi. 10.1007/s00381-016-3326-5

By:

Rouissi, Jihane;
Arvieu, Robin;
Dubory, Arnaud;
Vergari, Claudio;
Bachy, Manon;
Vialle, Raphaël

Publication type:

Article

Progress Toward Poliomyelitis Eradication--India, Bangladesh, and Nepal, January 2001-June 2002.

Published in:: MMWR: Morbidity & Mortality Weekly Report, 2002, v. 51, n. 37, p. 831
Publication type:: Article

Acute Flaccid Paralysis Syndrome Associated with West Nile Virus Infection--Mississippi and Louisiana, July-August 2002.

Published in:: 2002
Publication type:: Case Study

Outbreak of Poliomyelitis -- Dominican Republic and Haiti, 2000.

Published in:: MMWR: Morbidity & Mortality Weekly Report, 2000, v. 49, n. 48, p. 1094
Publication type:: Article

Progress Toward Poliomyelitis Eradication-Ethiopia, 1997-August2000.

Published in:: MMWR: Morbidity & Mortality Weekly Report, 2000, v. 49, n. 38, p. 867
Publication type:: Article

Acute flaccid myelitis: not uncommon in rural Uganda?

Published in:

Brain Communications, 2023, v. 5, n. 5, p. 1, doi. 10.1093/braincomms/fcad246

By:

Olum, Sam;
Scolding, Charlotte;
Omona, Venice;
Jackson, Kansiime;
Scolding, Neil

Publication type:

Article

Total Lower Lip Reconstruction - What Techniques Should We Choose.

Published in:

Medicina Moderna, 2014, v. 21, n. 4, p. 261

By:

Calcaianu, N.;
Popescu, S. A.;
Diveica, Daniela;
Lascăr, I.

Publication type:

Article

Transient Paraplegia following Labor Epidural Analgesia.

Published in:

Journal of Neuroanaesthesiology & Critical Care, 2022, v. 9, n. 2, p. 119, doi. 10.1055/s-0041-1740204

By:

Prashanth, Anitha;
Chakravarthy, Murali;
Motiani, Priya

Publication type:

Article

Phenotype and genotype spectrum of variants in guanine nucleotide exchange factor genes in a broad cohort of Iranian patients.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 4, p. 1, doi. 10.1002/mgg3.1894

By:

Mosallaei, Meysam;
Ehtesham, Naeim;
Beheshtian, Maryam;
Khoshbakht, Shahrouz;
Davarnia, Behzad;
Kahrizi, Kimia;
Najmabadi, Hossein

Publication type:

Article

A de novo TOP2B variant associated with global developmental delay and autism spectrum disorder.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 3, p. 1, doi. 10.1002/mgg3.1145

By:

Hiraide, Takuya;
Watanabe, Seiji;
Matsubayashi, Tomoko;
Yanagi, Kumiko;
Nakashima, Mitsuko;
Ogata, Tsutomu;
Saitsu, Hirotomo

Publication type:

Article

Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene.

Published in:

Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 3, p. 393, doi. 10.1002/mgg3.387

By:

van der Schoot, Vyne;
de Munnik, Sonja;
Venselaar, Hanka;
Elting, Mariet;
Mancini, Grazia M. S.;
Ravenswaaij-Arts, Conny M. A.;
Anderlid, Britt-Marie;
Brunner, Han G.;
Stevens, Servi J. C.

Publication type:

Article

Andersen-Tawil syndrome (LQT7) is associated with alterations in left ventricular rotational mechanics.

Published in:

Cardiologia Croatica, 2014, v. 9, n. 5/6, p. 188, doi. 10.15836/ccar.2014.188

By:

Kalapos, Anita;
Sepp, Róbert;
Domsik, Péter;
Forster, Tamás;
Nemes, Attila

Publication type:

Article

The oro-dental phenotype in Prader–Willi syndrome: a survey of 15 patients.

Published in:

International Journal of Paediatric Dentistry, 2008, v. 18, n. 1, p. 40, doi. 10.1111/j.1365-263X.2007.00857.x

By:

BAILLEUL‐FORESTIER, ISABELLE;
VERHAEGHE, VERONIEK;
FRYNS, JEAN‐PIERRE;
VINCKIER, FRANS;
DECLERCK, DOMINIQUE;
VOGELS, ANNICK

Publication type:

Article

Thyrotoxic Periodic Paralysis: A Review.

Published in:

Journal of Intensive Care Medicine, 2010, v. 25, n. 2, p. 71, doi. 10.1177/0885066609358849

By:

Pothiwala, Pooja;
Levine, Steven N.

Publication type:

Article

A Rare Case of Severe Congenital RYR1-Associated Myopathy.

Published in:

Case Reports in Genetics, 2018, p. 1, doi. 10.1155/2018/6184185

By:

Laforgia, Nicola;
Capozza, Manuela;
De Cosmo, Lucrezia;
Di Mauro, Antonio;
Baldassarre, Maria Elisabetta;
Mercadante, Francesca;
Torella, Anna Laura;
Nigro, Vincenzo;
Resta, Nicoletta

Publication type:

Article

Molecular and cytogenetic characterisation of a small interstitial de novo 20p13→p12.3 deletion in a patient with severe growth deficit.

Published in:

Cytogenetics & Cell Genetics, 2001, v. 94, n. 3/4, p. 142, doi. 10.1159/000048806

By:

Leprêtre, F.;
Montpellier, A C.;
Delannoy, V.;
Froguel, P.;
Vasseur, F.

Publication type:

Article

Anesthetic management of a 9-year-old girl with Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay syndrome: airway difficulties and postoperative apnea during tendon surgery.

Published in:

2025

By:

Santos, Jessica G.;
Buffon, Alexandre C.

Publication type:

Case Study

Clinical characteristics of children affected by autism spectrum disorder with and without generalized hypotonia.

Published in:

European Journal of Pediatrics, 2021, v. 180, n. 10, p. 3243, doi. 10.1007/s00431-021-04038-7

By:

Lopez-Espejo, Mauricio A.;
Nuñez, Alicia C.;
Moscoso, Odalie C.;
Escobar, Raul G.

Publication type:

Article

Benign Congenital Muscular Dystrophy: A Special Form of Congenital Hypotonia.

Published in:

Clinical Pediatrics, 1967, v. 6, n. 11, p. 655, doi. 10.1177/000992286700601113

By:

ZELLWEGER, H.;
AFIFI, A.;
McCORMICK, W F.;
MERGNER, W.

Publication type:

Article

A Hypotonic Infant.

Published in:: Clinical Pediatrics, 1963, v. 2, n. 3, p. 127
Publication type:: Article

A cohort study to assess the new WHO Japanese encephalitis surveillance standards.

Published in:

Bulletin of the World Health Organization, 2008, v. 86, n. 3, p. 178, doi. 10.2471/BLT.07.043307

By:

Solomon, Tom;
Thi Thu Thao;
Lewthwaite, Penny;
Mong How Ooi;
Kneen, Rachel;
Dung, Nguyen Minh;
White, Nicholas

Publication type:

Article

Gastric Dilatation and Abdominal Compartment Syndrome in a Child with Prader-Willi Syndrome.

Published in:

American Journal of Case Reports, 2017, v. 18, p. 637, doi. 10.12659/AJCR.903608

By:

Blat, Clara;
Busquets, Elisenda;
Gili, Teresa;
Caixàs, Assumpta;
Gabau, Elisabeth;
Corripio, Raquel

Publication type:

Article

Identification of a mutation in the MTM1 gene, associated with X-linked myotubular myopathy, in a Greek family.

Published in:

2011

By:

Fidani, L.;
Karagianni, P.;
Tsakalidis, C.;
Mitsiako, G.;
Hatziioannidis, I.;
Biancalana, V.;
Nikolaidis, N.

Publication type:

Case Study

Pan-brachial plexus neuropraxia following lightning: A rare case report.

Published in:

2015

By:

Patnaik, Ashis;
Mahapatra, Ashok Kumar;
Jha, Menka

Publication type:

Case Study

Anesthetic management of an adult patient with childhood x-linked adrenoleukodystrophy.

Published in:

Anaesthesia, Pain & Intensive Care, 2019, v. 23, n. 1, p. 78

By:

Gupta, Jyoti;
Arora, Divesh

Publication type:

Article

Congenital fibre type disproportion: an unusual presentation of respiratory failure.

Published in:

Anaesthesia, Pain & Intensive Care, 2011, v. 15, n. 3, p. 164

By:

Imran UI Haq, Muhammad;
Anand, D. P.

Publication type:

Article

Cerebral atrophy in 21 hypotonic infants with severe vitamin B12 deficiency.

Published in:

2020

By:

Acıpayam, Can;
Güneş, Hatice;
Güngör, Olcay;
İpek, Sevcan;
Sarışık, Nafiz;
Demir, Nurcan Ş

Publication type:

journal article

Neonatal hypotonia.

Published in:

2017

By:

Law ‐ ye, Bruno;
Adamsbaum, Catherine

Publication type:

journal article

Neonatal hypotonia.

Published in:: 2017
Publication type:: journal article

Cerebral palsy is not a diagnosis: A case report of a novel atlastin-1 mutation.

Published in:

2016

By:

Andersen, Erik W;
Leventer, Richard J;
Reddihough, Dinah S;
Davis, Mark R;
Ryan, Monique M

Publication type:

journal article

Performance of acute flaccid paralysis surveillance compared with World Health Organization standards.

Published in:

Journal of Paediatrics & Child Health, 2015, v. 51, n. 2, p. 209, doi. 10.1111/jpc.12691

By:

Desai, Shalini;
Smith, Tiffany;
Thorley, Bruce R;
Grenier, Danielle;
Dickson, Nigel;
Altpeter, Ekkehardt;
Sabbe, Martine;
Elliott, Elizabeth;
Zurynski, Yvonne

Publication type:

Article

Inherited neuromuscular disorders: Pathway to diagnosis.

Published in:

Journal of Paediatrics & Child Health, 2012, v. 48, n. 6, p. 458, doi. 10.1111/j.1440-1754.2011.02210.x

By:

Menezes, Manoj P;
North, Kathryn N

Publication type:

Article

Bilateral subdural hygromas and cephalhaematomas in male twins with severe myotubular myopathy caused by a Novel c.431delT (p.Leu144fs) mutation in MTM1 gene.

Published in:

Journal of Paediatrics & Child Health, 2011, v. 47, n. 1/2, p. 64, doi. 10.1111/j.1440-1754.2010.01737.x

By:

Chaudhari, Tejasvi;
Todd, David A;
Kent, Alison L;
Dopita, Belinda;
Hallam, Lavinia;
Freckmann, Mary-Louise;
Johnston, Heather M

Publication type:

Article

Polioviruses and other enteroviruses isolated from faecal samples of patients with acute flaccid paralysis in Australia, 1996–2004.

Published in:

Journal of Paediatrics & Child Health, 2006, v. 42, n. 6, p. 370, doi. 10.1111/j.1440-1754.2006.00875.x

By:

Kelly, Heath;
Brussen, Kerri A;
Lawrence, Andrew;
Elliot, Elizabeth;
Pearn, John;
Thorley, Bruce

Publication type:

Article

Congenital muscular dystrophy due to laminin α2 (merosin) deficiency (MDC1A) in an ethnic Malay girl.

Published in:

2017

By:

Thong, M. K.;
Ali, Sofiah;
Park, Y. E.;
Kim, D. S.;
Goh, K. J.;
Wong, K. T.

Publication type:

Case Study

幼儿精神运动发育落后伴中性粒细胞减少1 年余.

Published in:

Chinese Journal of Contemporary Pediatrics, 2018, v. 20, n. 6, p. 497

By:

张凡;
石秀玉;
刘丽英;
刘雨田;
邹丽萍

Publication type:

Article

Development of Infants With Idiopathic External Hydrocephalus.

Published in:

Journal of Child Neurology, 2015, v. 30, n. 8, p. 1044, doi. 10.1177/0883073814553273

By:

Halevy, Ayelet;
Cohen, Rony;
Viner, Ilana;
Diamond, Gary;
Shuper, Avinoam

Publication type:

Article

Neuroblastoma in a Patient With Spinal Muscular Atrophy Type I: Is It Just a Coincidence?

Published in:

Journal of Child Neurology, 2015, v. 30, n. 8, p. 1075, doi. 10.1177/0883073814542950

By:

Sag, Erdal;
Sen, Hilal Susam;
Haliloglu, Goknur;
Yalcin, Bilgehan;
Kutluk, Tezer

Publication type:

Article

MEGDEL Syndrome in a Child From Palestine: Report of a Novel Mutation in SERAC1 Gene.

Published in:

Journal of Child Neurology, 2015, v. 30, n. 8, p. 1053, doi. 10.1177/0883073814541474

By:

Dweikat, Imad M.;
Abdelrazeq, Samer;
Ayesh, Suhail;
Jundi, Tawfeeq

Publication type:

Article

A Case of Infantile Neuroaxonal Dystrophy of Neonatal Onset.

Published in:

Journal of Child Neurology, 2015, v. 30, n. 3, p. 368, doi. 10.1177/0883073814535493

By:

Fusco, Carlo;
Frattini, Daniele;
Panteghini, Celeste;
Pascarella, Rosario;
Garavaglia, Barbara

Publication type:

Article

Nutritional Practices at a Glance: Spinal Muscular Atrophy Type I Nutrition Survey Findings.

Published in:

Journal of Child Neurology, 2014, v. 29, n. 11, p. 1467, doi. 10.1177/0883073813503988

By:

Davis, Rebecca Hurst;
Godshall, Barbara J.;
Seffrood, Erin;
Marcus, Mary;
Schroth, Mary K.;
LaSalle, Bernard A;
Wong, Brenda;
Swoboda, Kathryn J.

Publication type:

Article

Benign and Periodic Movement Disorders in 2 Children With Down Syndrome.

Published in:

2014

By:

Purpura, Giulia;
Bozza, Margherita;
Bargagna, Stefania

Publication type:

Case Study

Obstetric Brachial Plexus Palsy Following Routine Versus Difficult Deliveries.

Published in:

Journal of Child Neurology, 2014, v. 29, n. 7, p. 920, doi. 10.1177/0883073813493500

By:

El-Sayed, Amel A. F.

Publication type:

Article