Results 91 to 100 of about 19,271 (154)

An uncommon case of neonatal asphyxia associated with infantile-onset Pompe disease. [PDF]

Ital J Pediatr
Leo F, Barchi L, Russo G, Balestri E, Chesi E, Di Dio F, Garavelli L, Iughetti L, Gargano G.   +8 more
europepmc   +1 more source

Monoclonal Gammopathy of Clinical Significance-Associated Glycogen Storage Myopathy: A Novel Acquired Muscle Disease. [PDF]

Cureus
Belkhribchia MR, Toua T, Lobrinus JA, Vallat JM, Salmaoui J.   +4 more
europepmc   +1 more source

Metabolic-Immune Crosstalk in Pediatric Rheumatology: From Pathogenesis to Precision Therapy. [PDF]

Iran J Child Neurol
Shashaani N, Javadi V, Rahmani K, Alaei MR, Shiari R.   +4 more
europepmc   +1 more source

Danon disease: Two case reports and literature review. [PDF]

Medicine (Baltimore)
Yu K, Peng B, Zhao D, Wang Y.
europepmc   +1 more source

[A Comprehensive Review on Glycogen Storage Disease: Molecular Mechanisms, Diagnosis, and Treatment Strategies]. [PDF]

Jugan Geongang Gwa Jilbyeong
Koh H.
europepmc   +1 more source

Hypercholesterolemia Successfully Treated With Two Different PCSK9 Inhibitors in a Patient With Glycogen Storage Disease IXd: Phosphorylase Kinase Deficiency. [PDF]

J Lipid Atheroscler
Huynh T, Nguyen H, Nguyen M.
europepmc   +1 more source

Noninfectious endocarditis as a novel cardiac manifestation of glycogen storage disease type IV: a case report. [PDF]

Transl Pediatr
Kingdon T, Ganta S, Shayan K, Schuchardt EL, Gomez-Arostegui J, Vellore Govardhan S.   +5 more
europepmc   +1 more source

Translational impact of machine learning-driven predictive modeling with pathway-based plasma metabolomic biomarkers for lung cancer detection. [PDF]

Front Oncol
Himdiat E, Haince JF, Bux RA, Huang G, Tappia PS, Ramjiawan B, Vaida M.   +6 more
europepmc   +1 more source

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Hydrocephalus associated with glycogen storage disease type II (pompe’s disease)

Pediatric Neurology, 1999
The authors describe a case of hydrocephalus in an 8-month, 2-week-old infant who had been previously diagnosed with glycogen storage disease type II. Cranial imaging revealed no evidence of obstruction within the ventricular system. This case adds to the central nervous system complications associated with this disorder.
M, Sahin, A J, du Plessis
openaire   +2 more sources