Recordati Rare Diseases Foundation, organizing training and education in rare diseases; Chair of the Metabolic Disorders Clinical Reference Group, which advises NHS England on metabolic services; and an elected member of Council of the Royal College of Physicians [books.google.com]

The book concludes with a clinical algorithm designed to be a resource for the physician in search of direction when considering an inherited metabolic disorder as the explanation for a patient with epilepsy. [books.google.de]

This information is not intended to be patient education, does not create any patient-physician relationship, and should not be used as a substitute for professional diagnosis and treatment. [diseaseinfosearch.org]

feeding, lack of energy (lethargy), weak muscle tone ( hypotonia ), hiccups, breathing problems, seizures, hiccups, and coma. [rarediseases.info.nih.gov]

At 4-days of age she had poor feeding and lethargy. At 1-month of age she developed seizures. Brain MRI showed agenesis of the corpus callosum. [cags.org.ae]

94 Paroxysmal Dyskinesias E-1637 95 Movement Disorders of Infancy E-1646 96 DrugInduced Movement Disorders in Children E-1651 97 Cerebral Palsy E-1660 98 Tics and Tourette Syndrome E-1673 99 Genetic and Metabolic Disorders of the White Matter E-1690 100 [books.google.com]

GCS enzyme activity can also be measured in liver biopsy. [10] Brain malformations such as agenesis of corpus callosum, gyral malformation, posterior fossa cysts, and ventricular enlargement may be evident in MRI brain. [11], [12] Vacuolating myelinopathy [pediatricneurosciences.com]

Seven patients had seizures with generalized spike and slow wave abnormalities in EEG; 2 had infantile spasms with hypsarrhythmia. All had delayed motor development, moderate mental retardation, and limited expressive language. [cags.org.ae]

Seven patients had seizures with generalized spike and slow wave abnormalities in EEG; 2 had infantile spasms with hypsarrhythmia. All had delayed motor development, moderate mental retardation, and limited expressive language. [cags.org.ae]

Pediatr Res 1982;16:57.[18] Ohara H, Suzuki T, Nakagawa T, Yoneshima M, Yamamoto M,Tsujino D, et al. 13C-UBT using an infrared spectrometer fordetection of Helicobacter pylori and for monitoring the eects oflansoprazole. [documents.tips]

Ohara H, Suzuki T, Nakagawa T, et al. 13C-UBT using aninfrared spectrometer for detection of Helicobacter pylori andfor monitoring the effects of lansoprazole. J Clin Gastroenterol1995;20(suppl 2):S115S117.18. Korman SH, Boneh A, Ichinohe A, et al. [docslide.com.br]

It is currently problematic to confirm the clinical diagnosis of glycine encephalopathy, requiring either invasive liver biopsy for enzymatic analysis of the glycine cleavage system or exhaustive mutation analysis. [ncbi.nlm.nih.gov]

biopsy for enzymatic analysis of the glycine cleavage system or exhaustive mutation analysis. [doi.org]

Her parents gave consent forthe breath test, but not for the liver biopsy. [docslide.com.br]

GCS enzyme activity can also be measured in liver biopsy. [10] Brain malformations such as agenesis of corpus callosum, gyral malformation, posterior fossa cysts, and ventricular enlargement may be evident in MRI brain. [11], [12] Vacuolating myelinopathy [pediatricneurosciences.com]