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Literature DB >> 11320051

Detection of inborn errors of metabolism in the newborn.

A Chakrapani¹, M A Cleary, J E Wraith.

Abstract

Entities: Disease

Mesh：

Year: 2001 PMID： 11320051 PMCID： PMC1721249 DOI： 10.1136/fn.84.3.f205

Source DB: PubMed Journal: Arch Dis Child Fetal Neonatal Ed ISSN： 1359-2998 Impact factor: 5.747

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20 in total

Review 1. Hydrops fetalis: lysosomal storage disorders in extremis.

Authors: D L Stone; E Sidransky
Journal: Adv Pediatr Date: 1999

2. Hepatic carnitine palmitoyltransferase I deficiency presenting as maternal illness in pregnancy.

Authors: A M Innes; L E Seargeant; K Balachandra; C R Roe; R J Wanders; J P Ruiter; O Casiro; D A Grewar; C R Greenberg
Journal: Pediatr Res Date: 2000-01 Impact factor: 3.756

3. Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1.

Authors: F Imtiaz; V Worthington; M Champion; C Beesley; J Charlwood; P Clayton; G Keir; N Mian; B Winchester
Journal: J Inherit Metab Dis Date: 2000-03 Impact factor: 4.982

4. Plasma ammonia concentration during the first six postnatal months, as measured with an ammonium-selective electrode.

Authors: R J Cooke; R L Jensen
Journal: Clin Chem Date: 1983-08 Impact factor: 8.327

Review 5. X-linked cardioskeletal myopathy and neutropenia (Barth syndrome)-MIM 302060.

Authors: P G Barth; R J Wanders; P Vreken
Journal: J Pediatr Date: 1999-09 Impact factor: 4.406

Review 6. Inborn errors of metabolism and pregnancy.

Authors: J H Walter
Journal: J Inherit Metab Dis Date: 2000-05 Impact factor: 4.982

7. Differentiation of transient hyperammonemia of the newborn and urea cycle enzyme defects by clinical presentation.

Authors: M L Hudak; M D Jones; S W Brusilow
Journal: J Pediatr Date: 1985-11 Impact factor: 4.406

8. A nationwide survey on transient hyperammonemia in newborn infants in Japan: prognosis of life and neurological outcome.

Authors: M Yoshino; Y Sakaguchi; N Kuriya; Y Ohtani; F Yamashita; T Hashimoto; K Oyanagi; K Tada; K Narisawa; T Kitagawa
Journal: Neuropediatrics Date: 1991-11 Impact factor: 1.947

9. Continuous venovenous haemofiltration in the acute treatment of inborn errors of metabolism.

Authors: M C Falk; J F Knight; L P Roy; B Wilcken; D N Schell; A J O'Connell; J Gillis
Journal: Pediatr Nephrol Date: 1994-06 Impact factor: 3.714

10. Absence of acidosis in the initial presentation of propionic acidaemia.

Authors: J H Walter; J E Wraith; M A Cleary
Journal: Arch Dis Child Fetal Neonatal Ed Date: 1995-05 Impact factor: 5.747

10 in total

1. Renal sonographic findings of type I glycogen storage disease in infancy and early childhood.

Authors: Chun-Chen Lin; Jeng-Daw Tsai; Shuan-Pei Lin; Hung-Chang Lee
Journal: Pediatr Radiol Date: 2005-05-19

Review 2. Therapies for the bone in mucopolysaccharidoses.

Authors: Shunji Tomatsu; Carlos J Alméciga-Díaz; Adriana M Montaño; Hiromasa Yabe; Akemi Tanaka; Vu Chi Dung; Roberto Giugliani; Francyne Kubaski; Robert W Mason; Eriko Yasuda; Kazuki Sawamoto; William Mackenzie; Yasuyuki Suzuki; Kenji E Orii; Luis A Barrera; William S Sly; Tadao Orii
Journal: Mol Genet Metab Date: 2014-12-09 Impact factor: 4.797

Review 3. Neonatal neuroimaging findings in inborn errors of metabolism.

Authors: Andrea Poretti; Susan I Blaser; Maarten H Lequin; Ali Fatemi; Avner Meoded; Frances J Northington; Eugen Boltshauser; Thierry A G M Huisman
Journal: J Magn Reson Imaging Date: 2012-05-07 Impact factor: 4.813

4. Neonatal bone marrow transplantation prevents bone pathology in a mouse model of mucopolysaccharidosis type I.

Authors: Alice Pievani; Isabella Azario; Laura Antolini; Tsutomu Shimada; Pravin Patel; Cristina Remoli; Benedetta Rambaldi; Maria Grazia Valsecchi; Mara Riminucci; Andrea Biondi; Shunji Tomatsu; Marta Serafini
Journal: Blood Date: 2014-10-08 Impact factor: 22.113

5. Molecular Genetics and Metabolism Report Long-term follow-up of post hematopoietic stem cell transplantation for Hurler syndrome: clinical, biochemical, and pathological improvements.

Authors: Eriko Yasuda; William Mackenzie; Kristen Ruhnke; Tsutomu Shimada; Robert W Mason; Jozef Zustin; Paul L Martin; Mihir Thacker; Tadao Orii; Yoshimichi Sai; Shunji Tomatsu
Journal: Mol Genet Metab Rep Date: 2015-03

Review 6. Impact of enzyme replacement therapy and hematopoietic stem cell transplantation in patients with Morquio A syndrome.

Authors: Shunji Tomatsu; Kazuki Sawamoto; Carlos J Alméciga-Díaz; Tsutomu Shimada; Michael B Bober; Yasutsugu Chinen; Hiromasa Yabe; Adriana M Montaño; Roberto Giugliani; Francyne Kubaski; Eriko Yasuda; Alexander Rodríguez-López; Angela J Espejo-Mojica; Oscar F Sánchez; Robert W Mason; Luis A Barrera; William G Mackenzie; Tadao Orii
Journal: Drug Des Devel Ther Date: 2015-04-01 Impact factor: 4.162