Barth syndrome is characterized in affected males by cardiomyopathy, neutropenia, skeletal myopathy, prepubertal growth delay, and distinctive facial gestalt (most evident in infancy); not all features may be present in a given affected male. [ncbi.nlm.nih.gov]

Le present article offre une analyse non lineaire du profil de parole d'un enfant de huit ans, qui montre les interactions entre la structure d'un mot et ses segments a mesure que la complexite du mot augmente. [go.gale.com]

Tuberous Sclerosis Complex: A review of the past, present and future. Turk J Med Sci. 2020; 28. DOI: 10.3906/sag-2002-133 [ Links ] [scielo.org.pe]

• Recurrent Infection

  infections in infancy and early childhood Abnormality of the integument Fair hair Abnormality of the musculoskeletal system Gowers sign Skeletal myopathy Abnormality of the nervous system Gait disturbance Global developmental delay Motor delay Abnormality [ncbi.nlm.nih.gov]

• Failure to Thrive

  […] to thrive Growth delay IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. [ncbi.nlm.nih.gov]

• Cutis Laxa

  FBLN5 Cutis laxa autosómica recesiva, tipo IA AR DESCRIPCIÓN Cutis laxa autosómica recesiva, tipo IA: Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. [genaden.com]

• Apraxia

  APTX Ataxia con apraxia oculomotora e hipoalbuminemia de inicio temprano AR DESCRIPCIÓN Ataxia con apraxia oculomotora e hipoalbuminemia de inicio temprano: Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid [genaden.com]

• Ataxia

  ATM Ataxia - telangiectasia AR DESCRIPCIÓN Ataxia - telangiectasia: Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. [genaden.com]

• Neutropenia

  Neutropenia is most often associated with mouth ulcers, pneumonia, and sepsis. The nonprogressive myopathy predominantly affects the proximal muscles, and results in early motor delays. [ncbi.nlm.nih.gov]

  Barth syndrome is characterized in affected males by cardiomyopathy, neutropenia, skeletal myopathy, prepubertal growth delay, and distinctive facial ges[...] [myobase.org]

  WAS Neutropenia congénita grave, ligada al X LXR DESCRIPCIÓN Neutropenia congénita grave, ligada al X: Anim pariatur cliche reprehenderit, enim eiusmod high life accusamus terry richardson ad squid. [genaden.com]

Current evidence for treatment with nusinersen for spinal muscular atrophy: a systematic review. Acta Neurol Belg. 2019;119(4):523-33. DOI: 10.1007/s13760-019-01199-z [ Links ] 39. [scielo.org.pe]

Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options. Biochem Genet. 2018; 56(1-2):7-21. DOI: 10.1007/s10528-017-9825-6 [ Links ] 51. Blackburn PR, Gass JM, Vairo FP e, Farnham KM, Atwal HK, Macklin S, et al. [scielo.org.pe]

Lysosomal storage diseases: from pathophysiology to therapy. Annu Rev Med. 2015;66:471-86. DOI: 10.1146/annurev-med-122313-085916 [ Links ] 64. Hagin D, Burroughs L, Torgerson TR. [scielo.org.pe]