An infant with methylmalonic aciduria and homocystinuria (cblC) presenting with retinal haemorrhages and subdural haematoma mimicking non-accidental injury (original) (raw)

Neonatal atypical hemolytic uremic syndrome due to methylmalonic aciduria and homocystinuria

Francesca Menni

Pediatric Nephrology, 2012

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Potential for Misdiagnosis Due to Lack of Metabolic Derangement in Combined Methylmalonic Aciduria/Hyperhomocysteinemia (cblC) in the Neonate

Cary Harding

Journal of Perinatology, 2003

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Favorable course of previously undiagnosed Methylmalonic Aciduria with Homocystinuria (cblC type) presenting with pulmonary hypertension and aHUS in a young child: a case report

Laura Capirchio

Italian Journal of Pediatrics, 2018

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A Case of Acquired Methymalonic Aciduria Secondary to a Subclinical Maternal Pernicious Anaemia

Paul Gissen

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Early-onset Combined Methylmalonic Aciduria and Homocystinuria: Neuroradiologic Findings

Andrea Rossi

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15-Month-old infant with failure to thrive, hepatomegaly, increased liver enzymes, hypoproteinemia, and seizures

Atilano Lacson

American Journal of Medical Genetics, 2003

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Vitamin B12 deficiency in an infant strictly breast-fed by a mother with latent pernicious anemia

James Roloff

The Journal of Pediatrics, 1982

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Neonatal onset of hyperornithinemia-hyperammonemia-homocitrullinuriasyndrome with favorable outcome

Giuseppe Buonocore

The Journal of Pediatrics, 1997

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Fatal haemorrhagic infarct in an infant with homocystinuria

Fenella Kirkham

Developmental Medicine & Child Neurology, 2007

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A Newborn with Methylmalonic Acidemia Accompanied by Extremely High Ammonia Levels

Nesrin Ceylan

2015

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Case 2: Hyponatremia and hyperkalemia in a four-week-old boy

Rodrick Lim

Paediatrics & child health, 2008

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Three siblings with nonketotic hyperglycinaemia, mildly elevated plasma homocysteine concentrations and moderate methylmalonic aciduria

Hans-Beat Hadorn

Journal of Inherited Metabolic Disease, 2000

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An infant with an extremely rare cobalamin disorder: methionine synthase deficiency and importance of early diagnosis and treatment

Emine Polat

The Turkish Journal of Pediatrics, 2019

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Severe megaloblastic anaemia in an infant

Vera Rodrigues

Case Reports, 2011

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Case report. Intracranial haemorrhage due to vitamin K deficiency following gastroenteritis in an infant

K. Manji

Journal of Tropical Pediatrics, 1999

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Dangerous hyperkalemia in a newborn: Answers

Daisy Khera

Pediatric Nephrology, 2018

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Vitamin K deficiency — Late onset intracranial haemorrhage

Nur Aydinli

European Journal of Paediatric Neurology, 1998

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Progressive neurological deterioration and MRI changes in cblC methylmalonic acidaemia treated with hydroxocobalamin

Douglas Fredrick

Journal of inherited metabolic disease, 1999

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cblE-Type Homocystinuria Presenting with Features of Haemolytic-Uremic Syndrome in the Newborn Period

Mariona Suñol

JIMD Reports, 2012

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Cerebral vascular complication and hyperhomocysteinemia in a cystinotic uremic child

Pierre Robitaille

Pediatric Nephrology, 1999

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Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndrome

Sílvia Sequeira

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A 5-week-old Infant With Lethargy, Irritability, Poor Feeding, and Vomiting

Daryle Brown

Journal of Emergency Nursing, 2009

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Case 20-2015: A Newborn Girl with Hypotension, Coagulopathy, Anemia, and Hyperbilirubinemia

Sjirk J Westra

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Poor Clinical Outcome In A Good Controlled Neonatal Citrullinemia Patient

Ali Haydar Sever

Dokuz Eylül Üniversitesi Tıp Fakültesi Dergisi, 2014

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Methylmalonic Acidemia in Children-Case Presentation

Camelia Alkhzouz

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Cor pulmonale as a complication of methylmalonic acidemia and homocystinuria (Cb1-C type)

Mark Splaingard

American Journal of Medical Genetics, 1990

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Polycythaemia and Anaemia in Newborn Monozygotic Twin Girls

James Littlewood

BMJ, 1963

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Combined methylmalonic aciduria and homocystinuria

Mine Özdil

Journal of pediatric neurology, 2015

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Cor pulmonale as a complication of methylmalonic acidemia and homocystinuria (Cbl-C type)

Yuval Brandstetter

American journal of medical genetics, 1990

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Congenital non-progressive encephalopathy and deafness with intermittent episodes of coma and hyperkynureninuria

B. Echenne

Journal of Inherited Metabolic Disease, 1996

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