Amyloidosis. New York: McGraw-Hill; 2001. pp. 5345–5378. [ Google Scholar ] Bernier FP, Snyder FF, McLeod DR. Deficiency of 5-oxoprolinase in an 8-year-old with developmental delay. [ncbi.nlm.nih.gov]

Brand-new chapters and comprehensive revisions throughout ensure that you have the most recent information on diagnosis and treatment of pediatric diseases based on the latest recommendations and methodologies. [books.google.ro]

Patients were hospitalized between the age of 13days to 1year and 3months for hypersomnia, developmental retardation, feeding deficiency, vomiting, icterus and recurrent pneumonia. All patients had significantly elevated urine 5-oxoproline. [ncbi.nlm.nih.gov]

We report the unusual case of a 35-year-old woman who initially presented with staphylococcal pneumonia but went on to develop a transient high anion gap metabolic acidosis. [ncbi.nlm.nih.gov]

We highlight the case of a 35-year-old woman who presented initially with an uncomplicated staphylococcal pneumonia but who went on to develop a transient but severe high anion gap metabolic acidosis associated with markedly increased urinary excretion [thefreelibrary.com]

On admission the patient was alert and orientated, with a mild pyrexia, slight breathlessness, and a productive cough. [thefreelibrary.com]

Two brothers, aged 16 and 11 years, had recurrent episodes of vomiting, diarrhoea and abdominal pain, starting in infancy. In spite of extensive investigations no cause of their enterocolitis could be established. [ncbi.nlm.nih.gov]

–Two brothers, aged 16 and 11 years, had recurrent episodes of vomiting, diarrhoea and abdominal pain, starting in infancy. In spite of extensive investigations no cause of their enterocolitis could be established. [onlinelibrary.wiley.com]

Parents should be advised that if a child shows warning signs of the disorder, such as lethargy or vomiting, they should immediately seek medical attention. [idph.state.il.us]

Case A 15-month-old girl, from non-consanguineous parents, presented to the emergency department with an 11-day history of diarrhoea (15–20 times daily) and vomiting (after every feed). [docksci.com]

She was admitted in our hospital due to repeated episodes of choking (respiratory difficulties and perioral cyanosis shortly after breast feeding) and generalized tonic-clonic seizures. [ncbi.nlm.nih.gov]

She was admitted in our hospital due to repeated episodes of choking (respiratory difficulties and perioral cyanosis shortly after breast feeding) and generalized tonic-clonic seizures. [ncbi.nlm.nih.gov]

An 82-year-old white woman was admitted to our intensive care unit because of septic shock caused by right knee methicillin-sensitive Staphylococcus aureus-induced arthritis. [ncbi.nlm.nih.gov]

Case presentation An 82-year-old white woman was admitted to our intensive care unit because of septic shock caused by right knee methicillin-sensitive Staphylococcus aureus -induced arthritis. [springermedizin.de]

She was admitted in our hospital due to repeated episodes of choking (respiratory difficulties and perioral cyanosis shortly after breast feeding) and generalized tonic-clonic seizures. [ncbi.nlm.nih.gov]

disturbances that develop variably over the years, if indeed the affected individuals survive the neonatal period. [thefreelibrary.com]

Abstract Severe glutathione synthetase (GS) deficiency is a rare genetic disorder with neonatal onset. The enzymatic block of the gamma-glutamyl cycle leads to a generalized glutathione deficiency. [ncbi.nlm.nih.gov]

normochromic anemia (hemoglobin: 8.5 g/dL: control values 9.0–13.0) with low plasma cobalamin (139 pmol/L: control values 198), normal plasma total homocysteine values (3.8 μmol/L: control values Genetic findings. ( a ) Available DNAs from probands and [ncbi.nlm.nih.gov]

Results for urea and electrolytes, arterial blood gases, and liver function tests were all normal, with C-reactive protein increased at 230 mg/L (reference range, Over the first 2 weeks of admission, the patient's clinical condition ameliorated with improvement [thefreelibrary.com]

Results for urea and electrolytes, arterial blood gases, and liver function tests were all normal, with C-reactive protein increased at 230 mg/L (reference range, Over the first 2 weeks of admission, the patient’s clinical condition ameliorated with improvement [clinchem.aaccjnls.org]