Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Homocystinuria versus Marfan's syndrome: the therapeutic relevance of the differential diagnosis.

Literature DB >> 6462308

Homocystinuria versus Marfan's syndrome: the therapeutic relevance of the differential diagnosis.

G H Boers, T W Polder, J R Cruysberg, H C Schoonderwaldt, J J Peetoom, T W Van Ruyven, A G Smals, P W Kloppenborg.

Abstract

Entities: Disease

Mesh：

Substances：

Year: 1984 PMID： 6462308

Source DB: PubMed Journal: Neth J Med ISSN： 0300-2977 Impact factor: 1.422

Keyword Cloud
Cited

× No keyword cloud information.

7 in total

1. Delay in diagnosis of homocystinuria: retrospective study of consecutive patients.

Authors: J R Cruysberg; G H Boers; J M Trijbels; A F Deutman
Journal: BMJ Date: 1996-10-26

2. Homocystinuria presenting as central retinal artery occlusion and longstanding thromboembolic disease.

Authors: W vd Berg; F D Verbraak; P J Bos
Journal: Br J Ophthalmol Date: 1990-11 Impact factor: 4.638

3. Improved identification of heterozygotes for homocystinuria due to cystathionine synthase deficiency by the combination of methionine loading and enzyme determination in cultured fibroblasts.

Authors: G H Boers; B Fowler; A G Smals; F J Trijbels; A I Leermakers; W J Kleijer; P W Kloppenborg
Journal: Hum Genet Date: 1985 Impact factor: 4.132

Review 4. Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.

Authors: Andrew A M Morris; Viktor Kožich; Saikat Santra; Generoso Andria; Tawfeg I M Ben-Omran; Anupam B Chakrapani; Ellen Crushell; Mick J Henderson; Michel Hochuli; Martina Huemer; Miriam C H Janssen; Francois Maillot; Philip D Mayne; Jenny McNulty; Tara M Morrison; Helene Ogier; Siobhan O'Sullivan; Markéta Pavlíková; Isabel Tavares de Almeida; Allyson Terry; Sufin Yap; Henk J Blom; Kimberly A Chapman
Journal: J Inherit Metab Dis Date: 2016-10-24 Impact factor: 4.982

Homocystinuria versus Marfan's syndrome: the therapeutic relevance of the differential diagnosis.

1. Delay in diagnosis of homocystinuria: retrospective study of consecutive patients.

2. Homocystinuria presenting as central retinal artery occlusion and longstanding thromboembolic disease.

3. Improved identification of heterozygotes for homocystinuria due to cystathionine synthase deficiency by the combination of methionine loading and enzyme determination in cultured fibroblasts.

Review 4. Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.

Review 5. Homocystinuria and ocular complications - A review.

Review 6. Rare Diseases Leading to Childhood Glaucoma: Epidemiology, Pathophysiogenesis, and Management.

7. Holistic Approach in the Management of Skeletal Deformity in a Case of Homocystinuria.