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Late diagnosis of RAPSN mutation-associated congenital myasthenic syndrome with obstructive sleep apnea in a 5-year-old girl. [PDF]

BMC Pediatr
Kurian GS, Frio TR, Ruchonnet-Métrailler I, Fluss J.   +3 more
europepmc   +1 more source

Prenatal-Onset Lethal Adenylosuccinate Lyase Deficiency Diagnosed by Rapid Whole Genome Sequencing: A Case Report. [PDF]

Cureus
Dusek J, Nedvedova L, Rysava E, Bartl J, Pokorna P, Slaba K.   +5 more
europepmc   +1 more source

Postoperative hypotonia

Child's Nervous System, 2020
To provide the insight for postoperative hypotonia. Selective posterior rhizotomy (SPR) has been proved as a powerful tool for reducing spasticity. And also, its functional benefit and long-term effect are also well-known.The most considered side effect of this procedure is postoperative hypotonia.
Dong Seok Kim, Kyu-Won Shim, Eun-Kyung Park   +2 more
exaly   +5 more sources

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Neonatal Hypotonia

Clinics in Perinatology, 2015
Neonatal hypotonia is a common problem in the neonatal intensive care unit. The genetic differential diagnosis is broad, encompassing primary muscular dystrophies, chromosome abnormalities, neuropathies, and inborn errors of metabolism. Recognition of hypotonia is relatively straightforward, but determining the cause can be challenging. It is important
Susan E Sparks
exaly   +3 more sources

Neonatal hypotonia

Journal of Paediatrics and Child Health, 2017
See ...
Bruno, Law-Ye, Catherine, Adamsbaum
openaire   +4 more sources

Two novel deletions in hypotonia–cystinuria syndrome

Molecular Genetics and Metabolism, 2012
Hypotonia-cystinuria syndrome (HCS) is an autosomal recessive disorder caused by combined deletions of SLC3A1 and PREPL. Clinical features include cystinuria, neonatal hypotonia with spontaneous improvement, poor feeding in neonates, hyperphagia in ...
Halil Ibrahim AYDIN, Luc Régal, İlyas Okur   +2 more
exaly   +2 more sources