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Quoted phrase not found in phrase index: "Severe neonatal hypotonia improving with age"
Page 1
Hypercalcemic Disorders in Children.
Stokes VJ, Nielsen MF, Hannan FM, Thakker RV. Stokes VJ, et al. J Bone Miner Res. 2017 Nov;32(11):2157-2170. doi: 10.1002/jbmr.3296. Epub 2017 Nov 2. J Bone Miner Res. 2017. PMID: 28914984 Free PMC article. Review.
In severe cases renal failure, pancreatitis and reduced consciousness may also occur and older children and adolescents may present with psychiatric symptoms. ...PHPT usually occurs as an isolated nonsyndromic and nonhereditary endocrinopathy, but may also occur as a hered …
In severe cases renal failure, pancreatitis and reduced consciousness may also occur and older children and adolescents may present w …
Recommendations for the diagnosis and management of childhood Prader-Willi syndrome in China.
Yang-Li D, Fei-Hong L, Hui-Wen Z, Ming-Sheng M, Xiao-Ping L, Li L, Yi W, Qing Z, Yong-Hui J, Chao-Chun Z; PWS Cooperation Group of Rare Diseases Branch of Chinese Pediatric Society; Zhejiang Expert Group for PWS. Yang-Li D, et al. Orphanet J Rare Dis. 2022 Jun 13;17(1):221. doi: 10.1186/s13023-022-02302-z. Orphanet J Rare Dis. 2022. PMID: 35698200 Free PMC article. Review.
Prader-Willi syndrome (PWS) is a complex and multisystem neurobehavioral disease, which is caused by the lack of expression of paternally inherited imprinted genes on chromosome15q11.2-q13.1. The clinical manifestations of PWS vary with age. It is characterized by sever …
Prader-Willi syndrome (PWS) is a complex and multisystem neurobehavioral disease, which is caused by the lack of expression of paternally in …
Phenotype of GABA-transaminase deficiency.
Koenig MK, Hodgeman R, Riviello JJ, Chung W, Bain J, Chiriboga CA, Ichikawa K, Osaka H, Tsuji M, Gibson KM, Bonnen PE, Pearl PL. Koenig MK, et al. Neurology. 2017 May 16;88(20):1919-1924. doi: 10.1212/WNL.0000000000003936. Epub 2017 Apr 14. Neurology. 2017. PMID: 28411234 Free PMC article. Review.
One patient, with a milder phenotype, began treatment at age 21 months and has continued for 20 months with improved alertness and less excessive adventitious movements. The second patient had a more severe phenotype and was 7 years of age at initiatio …
One patient, with a milder phenotype, began treatment at age 21 months and has continued for 20 months with improved alertness …
Adult-onset methylenetetrahydrofolate reductase deficiency.
Vieira D, Florindo C, Tavares de Almeida I, Macário MC. Vieira D, et al. BMJ Case Rep. 2020 Mar 10;13(3):e232241. doi: 10.1136/bcr-2019-232241. BMJ Case Rep. 2020. PMID: 32161077 Free PMC article.
It manifests typically in neonatal period with developmental delay, hypotonia, feeding problems or failure to thrive. ...The patient started betaine with clinical and biochemical improvement....
It manifests typically in neonatal period with developmental delay, hypotonia, feeding problems or failure to thrive. ...The p …
Clinical features of spinal muscular atrophy (SMA) type 2.
Cancès C, Richelme C, Barnerias C, Espil C. Cancès C, et al. Arch Pediatr. 2020 Dec;27(7S):7S18-7S22. doi: 10.1016/S0929-693X(20)30272-4. Arch Pediatr. 2020. PMID: 33357592 Review.
Infantile spinal muscular atrophy (SMA) type 2 is sometimes called intermediate SMA to indicate the disease severity. Generally, psychomotor development is normal until the age of 6 to 8 months, with the acquisition of a stable sitting position. The early signs are …
Infantile spinal muscular atrophy (SMA) type 2 is sometimes called intermediate SMA to indicate the disease severity. Generally, psyc …
Trihexyphenidyl for dystonia in cerebral palsy.
Harvey AR, Baker LB, Reddihough DS, Scheinberg A, Williams K. Harvey AR, et al. Cochrane Database Syst Rev. 2018 May 15;5(5):CD012430. doi: 10.1002/14651858.CD012430.pub2. Cochrane Database Syst Rev. 2018. PMID: 29763510 Free PMC article. Review.
One commonly occurring movement disorder amongst those with cerebral palsy is dystonia: sustained or intermittent involuntary muscle spasms and contractions that cause twisting, repetitive movements and abnormal postures. ...SELECTION CRITERIA: We included randomised contr …
One commonly occurring movement disorder amongst those with cerebral palsy is dystonia: sustained or intermittent involuntary muscle …
Early diagnosis and care is achieved but should be improved in infants with Prader-Willi syndrome.
Bar C, Diene G, Molinas C, Bieth E, Casper C, Tauber M. Bar C, et al. Orphanet J Rare Dis. 2017 Jun 28;12(1):118. doi: 10.1186/s13023-017-0673-6. Orphanet J Rare Dis. 2017. PMID: 28659150 Free PMC article.
BACKGROUND: PWS is a severe neurodevelopmental genetic disorder now usually diagnosed in the neonatal period from hypotonia and feeding difficulties. ...We also underscore the need to optimize neonatal care of infants with PWS....
BACKGROUND: PWS is a severe neurodevelopmental genetic disorder now usually diagnosed in the neonatal period from hypotonia …
Severe scoliosis in a patient with severe methylenetetrahydrofolate reductase deficiency.
Munoz T, Patel J, Badilla-Porras R, Kronick J, Mercimek-Mahmutoglu S. Munoz T, et al. Brain Dev. 2015 Jan;37(1):168-70. doi: 10.1016/j.braindev.2014.03.003. Epub 2014 Apr 13. Brain Dev. 2015. PMID: 24726568
We report a new patient with severe MTHFR deficiency who presented at age 4 months with early onset severe scoliosis associated with severe hypotonia. ...She was treated with vitamin B12, folic acid and betaine supplementation and showed impr …
We report a new patient with severe MTHFR deficiency who presented at age 4 months with early onset severe scoliosis as …
Multi-minicore disease revisited.
Nucci A, Queiroz LS, Zambelli HJ, Martins Filho J. Nucci A, et al. Arq Neuropsiquiatr. 2004 Dec;62(4):935-9. doi: 10.1590/s0004-282x2004000600002. Epub 2004 Dec 15. Arq Neuropsiquiatr. 2004. PMID: 15608948 Free article.
The classical form of the disease manifests as more or less severe hypotonia and generalized weakness with predominance in axial and proximal limb muscles. ...Case 1, with the classical benign form, was followed-up for 15 years. Case 2, presenting pharyngolaryngeal …
The classical form of the disease manifests as more or less severe hypotonia and generalized weakness with predominance in axi …
Cerebral atrophy in 21 hypotonic infants with severe vitamin B12 deficiency.
Acıpayam C, Güneş H, Güngör O, İpek S, Sarışık N, Demir NŞ. Acıpayam C, et al. J Paediatr Child Health. 2020 May;56(5):751-756. doi: 10.1111/jpc.14733. Epub 2019 Dec 23. J Paediatr Child Health. 2020. PMID: 31868292
Hypotonia and neurodevelopmental retardation, and anaemia were present in all patients. ...Treatment with B12 resulted in dramatic improvement in general activity and appetite within 72 h. Tremors resolved in all cases. ...
Hypotonia and neurodevelopmental retardation, and anaemia were present in all patients. ...Treatment with B12 resulted in dramatic …
38 results